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NM_178457.3(ZNF831):c.3820G>A (p.Ala1274Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2022
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:
RCV004170543.1

Allele description [Variation Report for NM_178457.3(ZNF831):c.3820G>A (p.Ala1274Thr)]

NM_178457.3(ZNF831):c.3820G>A (p.Ala1274Thr)

Genes:
LOC126863070:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:57770614-57771813 [Gene]
ZNF831:zinc finger protein 831 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.32
Genomic location:
Preferred name:
NM_178457.3(ZNF831):c.3820G>A (p.Ala1274Thr)
HGVS:
  • NC_000020.11:g.59195950G>A
  • NG_087566.1:g.492G>A
  • NM_001384354.1:c.3820G>A
  • NM_178457.3:c.3820G>AMANE SELECT
  • NP_001371283.1:p.Ala1274Thr
  • NP_848552.1:p.Ala1274Thr
  • NC_000020.10:g.57771005G>A
  • NM_178457.1:c.3820G>A
Protein change:
A1274T
Molecular consequence:
  • NM_001384354.1:c.3820G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178457.3:c.3820G>A - 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
SCV003658535Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 1, 2022) 		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, SCV003658535.2

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

Description

The c.3820G>A (p.A1274T) alteration is located in exon 2 (coding exon 2) of the ZNF831 gene. This alteration results from a G to A substitution at nucleotide position 3820, causing the alanine (A) at amino acid position 1274 to be replaced by a threonine (T). 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