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NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) AND Microphthalmia with brain and digit anomalies

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 19, 2017
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:
RCV001109988.11

Allele description [Variation Report for NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)]

NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)

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.272C>G (p.Ser91Cys)
HGVS:
  • NC_000014.9:g.53951951G>C
  • NG_009215.1:g.9886C>G
  • NM_001202.6:c.272C>GMANE SELECT
  • NM_001347912.1:c.413C>G
  • NM_001347913.2:c.83C>G
  • NM_001347914.2:c.272C>G
  • NM_001347915.2:c.83C>G
  • NM_001347916.1:c.272C>G
  • NM_001347917.1:c.83C>G
  • NM_130850.5:c.272C>G
  • NM_130851.4:c.272C>G
  • NP_001193.2:p.Ser91Cys
  • NP_001334841.1:p.Ser138Cys
  • NP_001334842.1:p.Ser28Cys
  • NP_001334843.1:p.Ser91Cys
  • NP_001334844.1:p.Ser28Cys
  • NP_001334845.1:p.Ser91Cys
  • NP_001334846.1:p.Ser28Cys
  • NP_570911.2:p.Ser91Cys
  • NP_570912.2:p.Ser91Cys
  • NC_000014.8:g.54418669G>C
  • NM_001202.3:c.272C>G
  • P12644:p.Ser91Cys
Protein change:
S138C; SER91CYS
Links:
UniProtKB: P12644#VAR_043531; OMIM: 112262.0004; dbSNP: rs121912767
NCBI 1000 Genomes Browser:
rs121912767
Molecular consequence:
  • NM_001202.6:c.272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347912.1:c.413C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347913.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347914.2:c.272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347915.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347916.1:c.272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347917.1:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130850.5:c.272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130851.4:c.272C>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001267372Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Dec 19, 2017) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

SIX2 and BMP4 mutations associate with anomalous kidney development.

Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine RD.

J Am Soc Nephrol. 2008 May;19(5):891-903. doi: 10.1681/ASN.2006111282. Epub 2008 Feb 27.

PubMed [citation]
PMID:
18305125
PMCID:
PMC2386720

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F.

Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.

PubMed [citation]
PMID:
24429398
PMCID:
PMC4040148
See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001267372.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 8, 2024