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

Recent activity

Clear Turn Off Turn On

Homo sapiens ring finger protein 215 (RNF215), mRNA
Homo sapiens ring finger protein 215 (RNF215), mRNA
gi|1653961113|ref|NM_001017981.2|

Nucleotide
signal transducer and activator of transcription 5A, partial [Rhinolophus clivos...
signal transducer and activator of transcription 5A, partial [Rhinolophus clivosus]
gi|2583825511|gb|WNO24673.1|

Protein
rogdi atypical leucine zipper, partial [Rhinolophus clivosus]
rogdi atypical leucine zipper, partial [Rhinolophus clivosus]
gi|2583825483|gb|WNO24660.1|

Protein
AP3D1 protein [Homo sapiens]
AP3D1 protein [Homo sapiens]
gi|14603210|gb|AAH10065.1|

Protein
Pseudomonas sp. N3(2012b) 16S ribosomal RNA gene, partial sequence
Pseudomonas sp. N3(2012b) 16S ribosomal RNA gene, partial sequence
gi|356892177|gb|JN820155.1|

Nucleotide

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
SCV003653512	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003653512

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 6, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003653512.2

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

#	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

ClinVar

Relating variation to medicine