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NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) AND Congenital anomaly of kidney and urinary tract

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 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:
RCV001255227.5

Allele description [Variation Report for NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)]

NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)

Gene:
GDF6:growth differentiation factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
HGVS:
  • NC_000008.11:g.96145185G>T
  • NG_008981.1:g.20608C>A
  • NM_001001557.4:c.746C>AMANE SELECT
  • NP_001001557.1:p.Ala249Glu
  • NC_000008.10:g.97157413G>T
  • NM_001001557.2:c.746C>A
  • NM_001001557.3:c.746C>A
  • Q6KF10:p.Ala249Glu
Protein change:
A249E; ALA249GLU
Links:
UniProtKB: Q6KF10#VAR_046903; OMIM: 601147.0001; dbSNP: rs121909352
NCBI 1000 Genomes Browser:
rs121909352
Molecular consequence:
  • NM_001001557.4:c.746C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital anomaly of kidney and urinary tract
Synonyms:
Congenital anomalies of kidney and urinary tract; Congenital anomalies of the kidney and urinary tract
Identifiers:
MONDO: MONDO:0019719; MeSH: C566906; MedGen: C1968949; OMIM: PS610805

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001334268Weber Lab, Hannover Medical School
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 15, 2024) 		paternalresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasoidpaternalyes1not providednot providednot providednot providedresearch

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

Rare heterozygous GDF6 variants in patients with renal anomalies.

Martens H, Hennies I, Getwan M, Christians A, Weiss AC, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG.

Eur J Hum Genet. 2020 Dec;28(12):1681-1693. doi: 10.1038/s41431-020-0678-9. Epub 2020 Jul 31.

PubMed [citation]
PMID:
32737436
PMCID:
PMC7784874

Details of each submission

From Weber Lab, Hannover Medical School, SCV001334268.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasoid1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024