NM_173798.4(ZCCHC12):c.493A>G (p.Ile165Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 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:
RCV004354251.1

Allele description [Variation Report for NM_173798.4(ZCCHC12):c.493A>G (p.Ile165Val)]

NM_173798.4(ZCCHC12):c.493A>G (p.Ile165Val)

Gene:
ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_173798.4(ZCCHC12):c.493A>G (p.Ile165Val)
HGVS:
  • NC_000023.11:g.118825737A>G
  • NG_042836.1:g.6995A>G
  • NM_001312891.2:c.493A>G
  • NM_173798.4:c.493A>GMANE SELECT
  • NP_001299820.1:p.Ile165Val
  • NP_776159.1:p.Ile165Val
  • NC_000023.10:g.117959700A>G
  • NM_173798.2:c.493A>G
Protein change:
I165V
Molecular consequence:
  • NM_001312891.2:c.493A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173798.4:c.493A>G - 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
SCV004080754Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 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, SCV004080754.2

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

Description

The c.493A>G (p.I165V) alteration is located in exon 4 (coding exon 1) of the ZCCHC12 gene. This alteration results from a A to G substitution at nucleotide position 493, causing the isoleucine (I) at amino acid position 165 to be replaced by a valine (V). 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 3, 2024