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NM_001202457.3(ZNF816):c.379G>C (p.Ala127Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2024
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:
RCV004603523.1

Allele description [Variation Report for NM_001202457.3(ZNF816):c.379G>C (p.Ala127Pro)]

NM_001202457.3(ZNF816):c.379G>C (p.Ala127Pro)

Genes:
ZNF816-ZNF321P:ZNF816-ZNF321P readthrough [Gene - HGNC]
ZNF816:zinc finger protein 816 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_001202457.3(ZNF816):c.379G>C (p.Ala127Pro)
HGVS:
  • NC_000019.10:g.52951396C>G
  • NM_001031665.4:c.379G>C
  • NM_001202456.3:c.379G>C
  • NM_001202457.3:c.379G>CMANE SELECT
  • NM_001202473.2:c.190+1355G>C
  • NP_001026835.1:p.Ala127Pro
  • NP_001189385.1:p.Ala127Pro
  • NP_001189386.1:p.Ala127Pro
  • NC_000019.9:g.53454649C>G
  • NM_001031665.2:c.379G>C
Protein change:
A127P
Molecular consequence:
  • NM_001202473.2:c.190+1355G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001031665.4:c.379G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202456.3:c.379G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202457.3:c.379G>C - 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
SCV005096216Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 2024) 		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, SCV005096216.1

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

Description

The c.379G>C (p.A127P) alteration is located in exon 5 (coding exon 3) of the ZNF816 gene. This alteration results from a G to C substitution at nucleotide position 379, causing the alanine (A) at amino acid position 127 to be replaced by a proline (P). 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: Sep 1, 2024