NM_001289104.2(PRKCSH):c.987GGA[6] (p.Glu333dup) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 22, 2024
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:: RCV000174068.10

Allele description [Variation Report for NM_001289104.2(PRKCSH):c.987GGA[6] (p.Glu333dup)]

NM_001289104.2(PRKCSH):c.987GGA[6] (p.Glu333dup)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_001289104.2(PRKCSH):c.987GGA[6] (p.Glu333dup)

HGVS:

NC_000019.10:g.11447576GGA[6]
NG_009300.1:g.17123GGA[6]
NM_001001329.3:c.987GGA[6]
NM_001289102.2:c.987GGA[6]
NM_001289103.2:c.987GGA[6]
NM_001289104.2:c.987GGA[6]MANE SELECT
NM_001379608.1:c.987GGA[6]
NM_001379609.1:c.987GGA[6]
NM_002743.3:c.987GGA[6]
NP_001001329.1:p.Glu333dup
NP_001276031.1:p.Glu333dup
NP_001276032.1:p.Glu333dup
NP_001276033.1:p.Glu333dup
NP_001366537.1:p.Glu333dup
NP_001366538.1:p.Glu333dup
NP_002734.2:p.Glu333dup
NC_000019.9:g.11558388_11558389insGAG
NC_000019.9:g.11558391GGA[6]
NM_002743.2:c.999_1001dup

Links:

dbSNP: rs763059069

NCBI 1000 Genomes Browser:

rs763059069

Molecular consequence:

NM_001001329.3:c.987GGA[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289102.2:c.987GGA[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289103.2:c.987GGA[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289104.2:c.987GGA[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001379608.1:c.987GGA[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001379609.1:c.987GGA[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_002743.3:c.987GGA[6] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000225303	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Uncertain significance (Nov 5, 2014)	germline	clinical testing	Citation Link,
SCV002167668	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 22, 2024)	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

SCV000225303

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Uncertain significance
(Nov 5, 2014)

germline

clinical testing

Citation Link,

SCV002167668

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 22, 2024)

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	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225303.4

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002167668.3

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

Description

This variant, c.999_1001dup, results in the insertion of 1 amino acid(s) of the PRKCSH protein (p.Glu333dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PRKCSH-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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