NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) AND Klippel-Feil syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000353571.6

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:: Klippel-Feil syndrome
Synonyms:: Cervical vertebral fusion autosomal recessive; Klippel Feil syndrome autosomal dominant; Cervical vertebral fusion autosomal dominant; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0001029; MedGen: C0022738; OMIM: PS118100; Human Phenotype Ontology: HP:0004602

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000475542	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18425797, 19129173 ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000475542

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA.

Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.

PubMed [citation]

PMID:: 18425797

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, et al.

Hum Mol Genet. 2009 Mar 15;18(6):1110-21. doi: 10.1093/hmg/ddp008. Epub 2009 Jan 6.

PubMed [citation]

PMID:: 19129173

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000475542.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Nov 10, 2024

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