U.S. flag

An official website of the United States government

NM_001202.6(BMP4):c.89C>T (p.Thr30Met) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 14, 2022
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:
RCV003069750.3

Allele description [Variation Report for NM_001202.6(BMP4):c.89C>T (p.Thr30Met)]

NM_001202.6(BMP4):c.89C>T (p.Thr30Met)

Gene:
BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q22.2
Genomic location:
Preferred name:
NM_001202.6(BMP4):c.89C>T (p.Thr30Met)
HGVS:
  • NC_000014.9:g.53952134G>A
  • NG_009215.1:g.9703C>T
  • NM_001202.5:c.89C>T
  • NM_001202.6:c.89C>TMANE SELECT
  • NM_001347912.1:c.230C>T
  • NM_001347913.2:c.-101C>T
  • NM_001347914.2:c.89C>T
  • NM_001347915.2:c.-101C>T
  • NM_001347916.1:c.89C>T
  • NM_001347917.1:c.-101C>T
  • NM_130850.5:c.89C>T
  • NM_130851.4:c.89C>T
  • NP_001193.2:p.Thr30Met
  • NP_001334841.1:p.Thr77Met
  • NP_001334843.1:p.Thr30Met
  • NP_001334845.1:p.Thr30Met
  • NP_570911.2:p.Thr30Met
  • NP_570912.2:p.Thr30Met
  • NC_000014.8:g.54418852G>A
Protein change:
T30M
Molecular consequence:
  • NM_001347913.2:c.-101C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001347915.2:c.-101C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001347917.1:c.-101C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001202.6:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347912.1:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347914.2:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347916.1:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130850.5:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130851.4:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Microphthalmia with brain and digit anomalies (MCOPS6)
Synonyms:
Microphthalmia syndromic 6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011936; MedGen: C1864689; Orphanet: 139471; OMIM: 607932
Name:
Orofacial cleft 11 (OFC11)
Synonyms:
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11; Orofacial cleft 11; ofc11
Identifiers:
MONDO: MONDO:0010906; MedGen: C2677434; OMIM: 600625

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
SCV003471804Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 14, 2022) 		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, SCV003471804.2

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. This variant is present in population databases (rs565895316, gnomAD 0.03%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 30 of the BMP4 protein (p.Thr30Met).

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

Last Updated: Sep 29, 2024