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NM_001202.6(BMP4):c.734G>A (p.Arg245Gln) AND Microphthalmia with brain and digit anomalies

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 16, 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:
RCV003225780.8

Allele description [Variation Report for NM_001202.6(BMP4):c.734G>A (p.Arg245Gln)]

NM_001202.6(BMP4):c.734G>A (p.Arg245Gln)

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.734G>A (p.Arg245Gln)
HGVS:
  • NC_000014.9:g.53950525C>T
  • NG_009215.1:g.11312G>A
  • NM_001202.6:c.734G>AMANE SELECT
  • NM_001347912.1:c.875G>A
  • NM_001347913.2:c.545G>A
  • NM_001347914.2:c.734G>A
  • NM_001347915.2:c.545G>A
  • NM_001347916.1:c.734G>A
  • NM_001347917.1:c.545G>A
  • NM_130850.5:c.734G>A
  • NM_130851.4:c.734G>A
  • NP_001193.2:p.Arg245Gln
  • NP_001334841.1:p.Arg292Gln
  • NP_001334842.1:p.Arg182Gln
  • NP_001334843.1:p.Arg245Gln
  • NP_001334844.1:p.Arg182Gln
  • NP_001334845.1:p.Arg245Gln
  • NP_001334846.1:p.Arg182Gln
  • NP_570911.2:p.Arg245Gln
  • NP_570912.2:p.Arg245Gln
  • NC_000014.8:g.54417243C>T
Protein change:
R182Q
Molecular consequence:
  • NM_001202.6:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347912.1:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347913.2:c.545G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347914.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347915.2:c.545G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347916.1:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347917.1:c.545G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130850.5:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130851.4:c.734G>A - 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
SCV003807082Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 16, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807082.2

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

Description

ACMG classification criteria: BP4 supporting

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

Last Updated: Nov 24, 2024