NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) AND not provided

Germline classification:: Uncertain significance (2 submissions)
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:: RCV000119389.12

Allele description [Variation Report for NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)]

NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)

Gene:

B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.3

Genomic location:

Preferred name:

NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)

Other names:

B3GALNT2, VAL268MET

HGVS:

NC_000001.11:g.235465675C>T
NG_033219.2:g.43807G>A
NM_001277155.3:c.925G>A
NM_152490.5:c.802G>AMANE SELECT
NP_001264084.1:p.Val309Met
NP_689703.1:p.Val268Met
NC_000001.10:g.235628992C>T
NM_152490.3:c.802G>A
NM_152490.4:c.802G>A
Q8NCR0:p.Val268Met
p.(Val268Met)

Protein change:

V268M; VAL268MET

Links:

UniProtKB: Q8NCR0#VAR_069640; OMIM: 610194.0005; dbSNP: rs367543074

NCBI 1000 Genomes Browser:

rs367543074

Molecular consequence:

NM_001277155.3:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152490.5:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Zbtb22 zinc finger and BTB domain containing 22 [Rattus norvegicus]
Zbtb22 zinc finger and BTB domain containing 22 [Rattus norvegicus]
Gene ID:309630

Gene
Rasa2 RAS p21 protein activator 2 [Rattus norvegicus]
Rasa2 RAS p21 protein activator 2 [Rattus norvegicus]
Gene ID:25597

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154296	Leiden Muscular Dystrophy pages (B3GALNT2)	no classification provided	not provided	germline, unknown	not provided
SCV005186338	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154296

Leiden Muscular Dystrophy pages (B3GALNT2)

no classification provided

not provided

germline, unknown

not provided

SCV005186338

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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

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	not provided
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only

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 Leiden Muscular Dystrophy pages (B3GALNT2), SCV000154296.1

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

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

From Breakthrough Genomics, Breakthrough Genomics, SCV005186338.1

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

#	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: Oct 26, 2024

ClinVar

Relating variation to medicine