NM_017436.7(A4GALT):c.1029dup (p.Thr344fs) AND p phenotype

Germline classification:: Affects (1 submission)
Last evaluated:: Jan 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000002816.4

Allele description [Variation Report for NM_017436.7(A4GALT):c.1029dup (p.Thr344fs)]

NM_017436.7(A4GALT):c.1029dup (p.Thr344fs)

Gene:

A4GALT:alpha 1,4-galactosyltransferase (P blood group) [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_017436.7(A4GALT):c.1029dup (p.Thr344fs)

Other names:

A4GALT, 1-BP INS, 1029C

HGVS:

NC_000022.11:g.42692926dup
NG_007495.2:g.33379dup
NM_001318038.3:c.1029dup
NM_017436.7:c.1029dupMANE SELECT
NP_001304967.1:p.Thr344fs
NP_059132.1:p.Thr344fs
LRG_795t1:c.1029dup
LRG_795:g.33379dup
LRG_795p1:p.Thr344fs
NC_000022.10:g.43088932dup
NG_007495.1:g.32948dup
NM_017436.4:c.1029dup

Protein change:

T344fs

Links:

OMIM: 607922.0006; dbSNP: rs387906280

NCBI 1000 Genomes Browser:

rs387906280

Molecular consequence:

NM_001318038.3:c.1029dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017436.7:c.1029dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: p phenotype
Synonyms:: P1PK BLOOD GROUP SYSTEM, p PHENOTYPE
Identifiers:: MedGen: C0599990

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022974	OMIM	no assertion criteria provided	Affects (Jan 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022974

OMIM

no assertion criteria provided

Affects
(Jan 1, 2002)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype.

Koda Y, Soejima M, Sato H, Maeda Y, Kimura H.

Transfusion. 2002 Jan;42(1):48-51.

PubMed [citation]

PMID:: 11896312

Details of each submission

From OMIM, SCV000022974.2

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

Description

In 2 Japanese individuals with the rare p phenotype of the P1PK blood group system (see 111400), Koda et al. (2002) identified a homozygous 1-bp insertion (1029insC) in the A4GALT gene, which causes a frameshift and loss of the stop codon, resulting in a gene product with an additional 92 amino acids. The mutation was not detected in 140 Japanese individuals.

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

Last Updated: Jul 16, 2023

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