NM_000512.5(GALNS):c.911G>T (p.Gly304Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 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:: RCV000413811.1

Allele description [Variation Report for NM_000512.5(GALNS):c.911G>T (p.Gly304Val)]

NM_000512.5(GALNS):c.911G>T (p.Gly304Val)

Gene:

GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000512.5(GALNS):c.911G>T (p.Gly304Val)

HGVS:

NC_000016.10:g.88832089C>A
NG_008667.1:g.29878G>T
NM_000512.5:c.911G>TMANE SELECT
NM_001323543.2:c.356G>T
NM_001323544.2:c.929G>T
NP_000503.1:p.Gly304Val
NP_001310472.1:p.Gly119Val
NP_001310473.1:p.Gly310Val
NC_000016.9:g.88898497C>A
NM_000512.4:c.911G>T

Protein change:

G119V

Links:

dbSNP: rs758439379

NCBI 1000 Genomes Browser:

rs758439379

Molecular consequence:

NM_000512.5:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001323543.2:c.356G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001323544.2:c.929G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000492005	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Nov 14, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000492005

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Nov 14, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000492005.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The G304V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. the G304V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 16, 2025

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