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NM_014345.3(ZNF318):c.6824C>G (p.Ser2275Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2021
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:
RCV004211026.1

Allele description [Variation Report for NM_014345.3(ZNF318):c.6824C>G (p.Ser2275Cys)]

NM_014345.3(ZNF318):c.6824C>G (p.Ser2275Cys)

Gene:
ZNF318:zinc finger protein 318 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_014345.3(ZNF318):c.6824C>G (p.Ser2275Cys)
HGVS:
  • NC_000006.12:g.43337174G>C
  • NM_014345.3:c.6824C>GMANE SELECT
  • NP_055160.2:p.Ser2275Cys
  • NC_000006.11:g.43304912G>C
  • NM_014345.2:c.6824C>G
Protein change:
S2275C
Molecular consequence:
  • NM_014345.3:c.6824C>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
SCV003720880Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 2021) 		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, SCV003720880.2

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

Description

The c.6824C>G (p.S2275C) alteration is located in exon 10 (coding exon 10) of the ZNF318 gene. This alteration results from a C to G substitution at nucleotide position 6824, causing the serine (S) at amino acid position 2275 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: Oct 26, 2024