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NM_018715.4(RCC2):c.20C>G (p.Ala7Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 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:
RCV004443615.1

Allele description [Variation Report for NM_018715.4(RCC2):c.20C>G (p.Ala7Gly)]

NM_018715.4(RCC2):c.20C>G (p.Ala7Gly)

Gene:
RCC2:regulator of chromosome condensation 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_018715.4(RCC2):c.20C>G (p.Ala7Gly)
HGVS:
  • NC_000001.11:g.17438495G>C
  • NG_051834.1:g.6260C>G
  • NG_162603.1:g.238G>C
  • NM_001136204.3:c.20C>G
  • NM_018715.4:c.20C>GMANE SELECT
  • NP_001129676.1:p.Ala7Gly
  • NP_061185.1:p.Ala7Gly
  • NC_000001.10:g.17764991G>C
  • NM_018715.3:c.20C>G
Protein change:
A7G
Molecular consequence:
  • NM_001136204.3:c.20C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018715.4:c.20C>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
SCV004938986Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 9, 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, SCV004938986.1

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

Description

The c.20C>G (p.A7G) alteration is located in exon 2 (coding exon 1) of the RCC2 gene. This alteration results from a C to G substitution at nucleotide position 20, causing the alanine (A) at amino acid position 7 to be replaced by a glycine (G). 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