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NM_001166037.2(ZNF260):c.1079A>G (p.Tyr360Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 5, 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:
RCV004494068.1

Allele description [Variation Report for NM_001166037.2(ZNF260):c.1079A>G (p.Tyr360Cys)]

NM_001166037.2(ZNF260):c.1079A>G (p.Tyr360Cys)

Gene:
ZNF260:zinc finger protein 260 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_001166037.2(ZNF260):c.1079A>G (p.Tyr360Cys)
HGVS:
  • NC_000019.10:g.36514160T>C
  • NM_001012756.3:c.1079A>G
  • NM_001166036.2:c.1079A>G
  • NM_001166037.2:c.1079A>GMANE SELECT
  • NM_001166038.2:c.1079A>G
  • NM_001375596.1:c.1079A>G
  • NM_001375597.1:c.1079A>G
  • NM_001375598.1:c.1079A>G
  • NP_001012774.1:p.Tyr360Cys
  • NP_001159508.1:p.Tyr360Cys
  • NP_001159509.1:p.Tyr360Cys
  • NP_001159510.1:p.Tyr360Cys
  • NP_001362525.1:p.Tyr360Cys
  • NP_001362526.1:p.Tyr360Cys
  • NP_001362527.1:p.Tyr360Cys
  • NC_000019.9:g.37005062T>C
  • NM_001012756.2:c.1079A>G
Protein change:
Y360C
Molecular consequence:
  • NM_001012756.3:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166036.2:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166037.2:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166038.2:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375596.1:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375597.1:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375598.1:c.1079A>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
SCV004986603Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 5, 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, SCV004986603.1

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

Description

The c.1079A>G (p.Y360C) alteration is located in exon 4 (coding exon 1) of the ZNF260 gene. This alteration results from a A to G substitution at nucleotide position 1079, causing the tyrosine (Y) at amino acid position 360 to be replaced by a cysteine (C). 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: May 7, 2024