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NM_018660.3(ZNF395):c.83C>A (p.Pro28His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 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:
RCV004486840.1

Allele description [Variation Report for NM_018660.3(ZNF395):c.83C>A (p.Pro28His)]

NM_018660.3(ZNF395):c.83C>A (p.Pro28His)

Gene:
ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.1
Genomic location:
Preferred name:
NM_018660.3(ZNF395):c.83C>A (p.Pro28His)
HGVS:
  • NC_000008.11:g.28361042G>T
  • NM_018660.3:c.83C>AMANE SELECT
  • NP_061130.1:p.Pro28His
  • NC_000008.10:g.28218559G>T
  • NM_018660.2:c.83C>A
Protein change:
P28H
Molecular consequence:
  • NM_018660.3:c.83C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004984376Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 14, 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, SCV004984376.1

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

Description

The c.83C>A (p.P28H) alteration is located in exon 2 (coding exon 1) of the ZNF395 gene. This alteration results from a C to A substitution at nucleotide position 83, causing the proline (P) at amino acid position 28 to be replaced by a histidine (H). 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