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NM_001381853.1(CHML):c.1367G>C (p.Arg456Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 2024
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:
RCV004610379.1

Allele description [Variation Report for NM_001381853.1(CHML):c.1367G>C (p.Arg456Thr)]

NM_001381853.1(CHML):c.1367G>C (p.Arg456Thr)

Genes:
CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
OPN3:opsin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001381853.1(CHML):c.1367G>C (p.Arg456Thr)
HGVS:
  • NC_000001.11:g.241634400C>G
  • NM_001381853.1:c.1367G>CMANE SELECT
  • NM_001381854.1:c.1367G>C
  • NM_001381855.1:c.*1327G>C
  • NM_001381856.1:c.*1633G>C
  • NM_001821.4:c.1367G>C
  • NM_014322.3:c.373+5482G>CMANE SELECT
  • NP_001368782.1:p.Arg456Thr
  • NP_001368783.1:p.Arg456Thr
  • NP_001812.2:p.Arg456Thr
  • NC_000001.10:g.241797702C>G
  • NM_001821.3:c.1367G>C
Protein change:
R456T
Molecular consequence:
  • NM_001381855.1:c.*1327G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001381856.1:c.*1633G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_014322.3:c.373+5482G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001381853.1:c.1367G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001381854.1:c.1367G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001821.4:c.1367G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005104142Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 20, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005104142.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1367G>C (p.R456T) alteration is located in exon 1 (coding exon 1) of the CHML gene. This alteration results from a G to C substitution at nucleotide position 1367, causing the arginine (R) at amino acid position 456 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 1, 2024