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NM_014930.3(ZNF510):c.1523G>A (p.Arg508Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 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:
RCV004492149.1

Allele description [Variation Report for NM_014930.3(ZNF510):c.1523G>A (p.Arg508Lys)]

NM_014930.3(ZNF510):c.1523G>A (p.Arg508Lys)

Gene:
ZNF510:zinc finger protein 510 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.33
Genomic location:
Preferred name:
NM_014930.3(ZNF510):c.1523G>A (p.Arg508Lys)
HGVS:
  • NC_000009.12:g.96759307C>T
  • NM_001314059.2:c.1523G>A
  • NM_001314060.2:c.1337G>A
  • NM_014930.3:c.1523G>AMANE SELECT
  • NP_001300988.1:p.Arg508Lys
  • NP_001300989.1:p.Arg446Lys
  • NP_055745.1:p.Arg508Lys
  • NC_000009.11:g.99521589C>T
  • NM_014930.1:c.1523G>A
Protein change:
R446K
Molecular consequence:
  • NM_001314059.2:c.1523G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001314060.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014930.3:c.1523G>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
SCV004986055Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 16, 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, SCV004986055.1

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

Description

The c.1523G>A (p.R508K) alteration is located in exon 6 (coding exon 5) of the ZNF510 gene. This alteration results from a G to A substitution at nucleotide position 1523, causing the arginine (R) at amino acid position 508 to be replaced by a lysine (K). 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