NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 22, 2018
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:: RCV000761907.18

Allele description [Variation Report for NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)]

NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)

Gene:

CAPN3:calpain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)

HGVS:

NC_000015.10:g.42392657T>C
NG_008660.1:g.49555T>C
NM_000070.3:c.964T>CMANE SELECT
NM_024344.2:c.964T>C
NM_173087.2:c.820T>C
NP_000061.1:p.Tyr322His
NP_077320.1:p.Tyr322His
NP_775110.1:p.Tyr274His
LRG_849t1:c.964T>C
LRG_849:g.49555T>C
LRG_849p1:p.Tyr322His
NC_000015.9:g.42684855T>C
NM_000070.2:c.964T>C

Protein change:

Y274H

Links:

dbSNP: rs149591108

NCBI 1000 Genomes Browser:

rs149591108

Molecular consequence:

NM_000070.3:c.964T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024344.2:c.964T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_173087.2:c.820T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000892126	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Jul 1, 2018)	germline	clinical testing	Citation Link,
SCV001143422	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Oct 22, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16411092, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000892126

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Jul 1, 2018)

germline

clinical testing

Citation Link,

SCV001143422

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Oct 22, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Calpain-3 mutations in Turkey.

Balci B, Aurino S, Haliloglu G, Talim B, Erdem S, Akcören Z, Tan E, Caglar M, Richard I, Nigro V, Topaloglu H, Dincer P.

Eur J Pediatr. 2006 May;165(5):293-8. Epub 2006 Jan 13.

PubMed [citation]

PMID:: 16411092

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000892126.22

#	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Athena Diagnostics Inc, SCV001143422.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Apr 15, 2024

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