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NM_020207.7(ERCC6L2):c.-2G>C AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 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:
RCV004617939.1

Allele description [Variation Report for NM_020207.7(ERCC6L2):c.-2G>C]

NM_020207.7(ERCC6L2):c.-2G>C

Gene:
ERCC6L2:ERCC excision repair 6 like 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_020207.7(ERCC6L2):c.-2G>C
HGVS:
  • NC_000009.12:g.95876037G>C
  • NG_034107.1:g.5420G>C
  • NG_034107.2:g.5348G>C
  • NG_116888.1:g.592G>C
  • NM_001010895.4:c.-2G>C
  • NM_001375291.1:c.-2G>C
  • NM_001375292.1:c.-2G>C
  • NM_001375293.1:c.-2G>C
  • NM_001375294.1:c.-2G>C
  • NM_020207.7:c.-2G>CMANE SELECT
  • NC_000009.11:g.98638319G>C
  • NM_001010895.2:c.32G>C
  • NR_164677.1:n.347G>C
Molecular consequence:
  • NM_001010895.4:c.-2G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375291.1:c.-2G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375292.1:c.-2G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375293.1:c.-2G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375294.1:c.-2G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_020207.7:c.-2G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_164677.1:n.347G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005113633Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 1, 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, SCV005113633.1

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

Description

The c.32G>C (p.R11P) alteration is located in exon 1 (coding exon 1) of the ERCC6L2 gene. This alteration results from a G to C substitution at nucleotide position 32, causing the arginine (R) at amino acid position 11 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: Aug 11, 2024