NM_001202.6(BMP4):c.153T>G (p.His51Gln) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 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:: RCV001967361.5

Allele description [Variation Report for NM_001202.6(BMP4):c.153T>G (p.His51Gln)]

NM_001202.6(BMP4):c.153T>G (p.His51Gln)

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.153T>G (p.His51Gln)

HGVS:

NC_000014.9:g.53952070A>C
NG_009215.1:g.9767T>G
NM_001202.6:c.153T>GMANE SELECT
NM_001347912.1:c.294T>G
NM_001347913.2:c.-37T>G
NM_001347914.2:c.153T>G
NM_001347915.2:c.-37T>G
NM_001347916.1:c.153T>G
NM_001347917.1:c.-37T>G
NM_130850.5:c.153T>G
NM_130851.4:c.153T>G
NP_001193.2:p.His51Gln
NP_001334841.1:p.His98Gln
NP_001334843.1:p.His51Gln
NP_001334845.1:p.His51Gln
NP_570911.2:p.His51Gln
NP_570912.2:p.His51Gln
NC_000014.8:g.54418788A>C

Protein change:

H51Q

Links:

dbSNP: rs950786038

NCBI 1000 Genomes Browser:

rs950786038

Molecular consequence:

NM_001347913.2:c.-37T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001347915.2:c.-37T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001347917.1:c.-37T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001202.6:c.153T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347912.1:c.294T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347914.2:c.153T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347916.1:c.153T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130850.5:c.153T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130851.4:c.153T>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002206902	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002206902

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 4, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV002206902.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 51 of the BMP4 protein (p.His51Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1429870).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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