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NM_006136.3(CAPZA2):c.68A>C (p.His23Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2023
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:
RCV004363256.1

Allele description [Variation Report for NM_006136.3(CAPZA2):c.68A>C (p.His23Pro)]

NM_006136.3(CAPZA2):c.68A>C (p.His23Pro)

Gene:
CAPZA2:capping actin protein of muscle Z-line subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_006136.3(CAPZA2):c.68A>C (p.His23Pro)
HGVS:
  • NC_000007.14:g.116888155A>C
  • NM_006136.3:c.68A>CMANE SELECT
  • NP_006127.1:p.His23Pro
  • NC_000007.13:g.116528209A>C
  • NM_006136.2:c.68A>C
Protein change:
H23P
Molecular consequence:
  • NM_006136.3:c.68A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004092135Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 19, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004092135.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.68A>C (p.H23P) alteration is located in exon 2 (coding exon 2) of the CAPZA2 gene. This alteration results from a A to C substitution at nucleotide position 68, causing the histidine (H) at amino acid position 23 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024