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NM_003415.3(ZNF268):c.525G>A (p.Thr175=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 23, 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:
RCV004281635.1

Allele description [Variation Report for NM_003415.3(ZNF268):c.525G>A (p.Thr175=)]

NM_003415.3(ZNF268):c.525G>A (p.Thr175=)

Gene:
ZNF268:zinc finger protein 268 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_003415.3(ZNF268):c.525G>A (p.Thr175=)
HGVS:
  • NC_000012.12:g.133202211G>A
  • NM_001165881.3:c.525G>A
  • NM_001165882.3:c.276G>A
  • NM_001165883.2:c.302G>A
  • NM_001165884.3:c.101G>A
  • NM_001165885.2:c.398G>A
  • NM_001165886.2:c.197G>A
  • NM_001165887.2:c.*49G>A
  • NM_003415.3:c.525G>AMANE SELECT
  • NM_152943.3:c.*49G>A
  • NP_001159353.1:p.Thr175=
  • NP_001159354.1:p.Thr92=
  • NP_001159355.1:p.Arg101Gln
  • NP_001159356.2:p.Arg34Gln
  • NP_001159357.1:p.Arg133Gln
  • NP_001159358.1:p.Arg66Gln
  • NP_003406.1:p.Thr175=
  • NC_000012.11:g.133778797G>A
  • NM_003415.2:c.525G>A
Protein change:
R101Q
Molecular consequence:
  • NM_001165887.2:c.*49G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152943.3:c.*49G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001165883.2:c.302G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165884.3:c.101G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165885.2:c.398G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165886.2:c.197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165881.3:c.525G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001165882.3:c.276G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003415.3:c.525G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV003943187Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 23, 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, SCV003943187.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024