NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 20, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000080027.21

Allele description [Variation Report for NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr)]

NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr)

Gene:

PRKCSH:PRKCSH beta subunit of glucosidase II [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr)

HGVS:

NC_000019.10:g.11447460G>A
NG_009300.1:g.17007G>A
NM_001001329.3:c.871G>A
NM_001289102.2:c.871G>A
NM_001289103.2:c.871G>A
NM_001289104.2:c.871G>AMANE SELECT
NM_001379608.1:c.871G>A
NM_001379609.1:c.871G>A
NM_002743.3:c.871G>A
NP_001001329.1:p.Ala291Thr
NP_001276031.1:p.Ala291Thr
NP_001276032.1:p.Ala291Thr
NP_001276033.1:p.Ala291Thr
NP_001366537.1:p.Ala291Thr
NP_001366538.1:p.Ala291Thr
NP_002734.2:p.Ala291Thr
NP_002734.2:p.Ala291Thr
NC_000019.9:g.11558275G>A
NM_002743.2:c.871G>A
P14314:p.Ala291Thr

Protein change:

A291T

Links:

UniProtKB: P14314#VAR_028762; dbSNP: rs11557488

NCBI 1000 Genomes Browser:

rs11557488

Molecular consequence:

NM_001001329.3:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289102.2:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289103.2:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289104.2:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379608.1:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379609.1:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002743.3:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000111921	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Nov 20, 2015)	germline	clinical testing	Citation Link,
SCV000309164	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000111921

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Nov 20, 2015)

germline

clinical testing

Citation Link,

SCV000309164

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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	unknown	11	not provided	not provided	not provided	not provided	clinical testing

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 Eurofins Ntd Llc (ga), SCV000111921.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	11	not provided	not provided	clinical testing	not provided

#	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		11	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000309164.1

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

#	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 3, 2024

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