NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) AND Klippel-Feil syndrome 1, autosomal dominant

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 28, 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:: RCV000264823.5

Allele description [Variation Report for NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg)]

NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg)

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.356A>G (p.Gln119Arg)

HGVS:

NC_000008.11:g.96160337T>C
NG_008981.1:g.5456A>G
NM_001001557.4:c.356A>GMANE SELECT
NP_001001557.1:p.Gln119Arg
NC_000008.10:g.97172565T>C
NM_001001557.2:c.356A>G
Q6KF10:p.Gln119Arg

Protein change:

Q119R

Links:

UniProtKB: Q6KF10#VAR_063025; dbSNP: rs140579014

NCBI 1000 Genomes Browser:

rs140579014

Molecular consequence:

NM_001001557.4:c.356A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Klippel-Feil syndrome 1, autosomal dominant (KFS1)
Synonyms:: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT
Identifiers:: MONDO: MONDO:0007306; MedGen: C1861689; Orphanet: 2345; OMIM: 118100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000475546	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19129173, 20494911 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000475546

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 28, 2017)

germline

clinical testing

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

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

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

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.

Br J Ophthalmol. 2010 Aug;94(8):1100-4. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21.

PubMed [citation]

PMID:: 20494911

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000475546.3

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

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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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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