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NM_003782.4(B3GALT4):c.127G>A (p.Ala43Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 2022
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:
RCV004161603.1

Allele description [Variation Report for NM_003782.4(B3GALT4):c.127G>A (p.Ala43Thr)]

NM_003782.4(B3GALT4):c.127G>A (p.Ala43Thr)

Gene:
B3GALT4:beta-1,3-galactosyltransferase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_003782.4(B3GALT4):c.127G>A (p.Ala43Thr)
HGVS:
  • NC_000006.12:g.33277546G>A
  • NM_003782.4:c.127G>AMANE SELECT
  • NP_003773.1:p.Ala43Thr
  • NC_000006.11:g.33245323G>A
  • NM_003782.3:c.127G>A
Protein change:
A43T
Molecular consequence:
  • NM_003782.4:c.127G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003653512Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 6, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003653512.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.127G>A (p.A43T) alteration is located in exon 1 (coding exon 1) of the B3GALT4 gene. This alteration results from a G to A substitution at nucleotide position 127, causing the alanine (A) at amino acid position 43 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024