U.S. flag

An official website of the United States government

NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 8, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003790532.2

Allele description [Variation Report for NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)]

NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)
HGVS:
  • NC_000011.10:g.31790750C>A
  • NG_008679.1:g.32212G>T
  • NG_034086.2:g.285985C>A
  • NM_000280.6:c.1143G>T
  • NM_001127612.3:c.1143G>T
  • NM_001258462.3:c.1185G>T
  • NM_001258463.2:c.1185G>T
  • NM_001258464.2:c.1143G>T
  • NM_001258465.3:c.1143G>T
  • NM_001310158.2:c.1185G>T
  • NM_001310160.2:c.735G>T
  • NM_001310161.3:c.735G>T
  • NM_001368887.2:c.1143G>T
  • NM_001368888.2:c.1143G>T
  • NM_001368889.2:c.1143G>T
  • NM_001368890.2:c.1143G>T
  • NM_001368891.2:c.1143G>T
  • NM_001368892.2:c.1185G>T
  • NM_001368893.2:c.1185G>T
  • NM_001368894.2:c.1185G>TMANE SELECT
  • NM_001368899.2:c.735G>T
  • NM_001368900.2:c.735G>T
  • NM_001368901.2:c.735G>T
  • NM_001368902.2:c.735G>T
  • NM_001368903.2:c.735G>T
  • NM_001368904.2:c.735G>T
  • NM_001368905.2:c.735G>T
  • NM_001368906.2:c.735G>T
  • NM_001368907.2:c.735G>T
  • NM_001368908.2:c.735G>T
  • NM_001368909.2:c.735G>T
  • NM_001368910.2:c.1386G>T
  • NM_001368911.2:c.1078-731G>T
  • NM_001368912.2:c.1075-731G>T
  • NM_001368913.2:c.1075-731G>T
  • NM_001368914.2:c.1075-731G>T
  • NM_001368915.2:c.1033-731G>T
  • NM_001368916.2:c.1033-731G>T
  • NM_001368917.2:c.1033-731G>T
  • NM_001368918.2:c.1260G>T
  • NM_001368919.2:c.1260G>T
  • NM_001368920.2:c.1218G>T
  • NM_001368921.2:c.874-731G>T
  • NM_001368922.2:c.984G>T
  • NM_001368923.2:c.984G>T
  • NM_001368924.2:c.984G>T
  • NM_001368925.2:c.984G>T
  • NM_001368926.2:c.984G>T
  • NM_001368927.2:c.984G>T
  • NM_001368928.2:c.942G>T
  • NM_001368929.2:c.625-731G>T
  • NM_001368930.2:c.540G>T
  • NM_001604.6:c.1185G>T
  • NP_000271.1:p.Met381Ile
  • NP_000271.1:p.Met381Ile
  • NP_001121084.1:p.Met381Ile
  • NP_001245391.1:p.Met395Ile
  • NP_001245392.1:p.Met395Ile
  • NP_001245393.1:p.Met381Ile
  • NP_001245394.1:p.Met381Ile
  • NP_001297087.1:p.Met395Ile
  • NP_001297089.1:p.Met245Ile
  • NP_001297090.1:p.Met245Ile
  • NP_001355816.1:p.Met381Ile
  • NP_001355817.1:p.Met381Ile
  • NP_001355818.1:p.Met381Ile
  • NP_001355819.1:p.Met381Ile
  • NP_001355820.1:p.Met381Ile
  • NP_001355821.1:p.Met395Ile
  • NP_001355822.1:p.Met395Ile
  • NP_001355823.1:p.Met395Ile
  • NP_001355828.1:p.Met245Ile
  • NP_001355829.1:p.Met245Ile
  • NP_001355830.1:p.Met245Ile
  • NP_001355831.1:p.Met245Ile
  • NP_001355832.1:p.Met245Ile
  • NP_001355833.1:p.Met245Ile
  • NP_001355834.1:p.Met245Ile
  • NP_001355835.1:p.Met245Ile
  • NP_001355836.1:p.Met245Ile
  • NP_001355837.1:p.Met245Ile
  • NP_001355838.1:p.Met245Ile
  • NP_001355839.1:p.Met462Ile
  • NP_001355847.1:p.Met420Ile
  • NP_001355848.1:p.Met420Ile
  • NP_001355849.1:p.Met406Ile
  • NP_001355851.1:p.Met328Ile
  • NP_001355852.1:p.Met328Ile
  • NP_001355853.1:p.Met328Ile
  • NP_001355854.1:p.Met328Ile
  • NP_001355855.1:p.Met328Ile
  • NP_001355856.1:p.Met328Ile
  • NP_001355857.1:p.Met314Ile
  • NP_001355859.1:p.Met180Ile
  • NP_001595.2:p.Met395Ile
  • LRG_720t1:c.1143G>T
  • LRG_720:g.32212G>T
  • LRG_720p1:p.Met381Ile
  • NC_000011.9:g.31812298C>A
  • NM_000280.3:c.1143G>T
  • NR_160917.2:n.1529G>T
Protein change:
M180I
Molecular consequence:
  • NM_001368911.2:c.1078-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368912.2:c.1075-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368913.2:c.1075-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368914.2:c.1075-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368915.2:c.1033-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368916.2:c.1033-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368917.2:c.1033-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368921.2:c.874-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368929.2:c.625-731G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000280.6:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127612.3:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258462.3:c.1185G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258463.2:c.1185G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258464.2:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258465.3:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310158.2:c.1185G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310160.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310161.3:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368887.2:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368888.2:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368889.2:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368890.2:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368891.2:c.1143G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368892.2:c.1185G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368893.2:c.1185G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368894.2:c.1185G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368899.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368900.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368901.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368902.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368903.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368904.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368905.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368906.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368907.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368908.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368909.2:c.735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368910.2:c.1386G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368918.2:c.1260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368919.2:c.1260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368920.2:c.1218G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368922.2:c.984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368923.2:c.984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368924.2:c.984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368925.2:c.984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368926.2:c.984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368927.2:c.984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368928.2:c.942G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368930.2:c.540G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001604.6:c.1185G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160917.2:n.1529G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aniridia 1 (AN1)
Identifiers:
MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210
Name:
Irido-corneo-trabecular dysgenesis (ASGD5)
Synonyms:
ANTERIOR SEGMENT DYSGENESIS 5
Identifiers:
MONDO: MONDO:0011414; MedGen: C0344559; Orphanet: 708; OMIM: 604229; Human Phenotype Ontology: HP:0000659

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004580695Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 8, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004580695.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PAX6 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with PAX6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 381 of the PAX6 protein (p.Met381Ile).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024