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NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 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:
RCV002550088.2

Allele description [Variation Report for NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys)]

NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys)

Gene:
LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q33.3
Genomic location:
Preferred name:
NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys)
HGVS:
  • NC_000013.11:g.108208826G>A
  • NG_007396.1:g.11709C>T
  • NM_001098268.2:c.2443C>T
  • NM_001330595.2:c.2242C>T
  • NM_001352598.2:c.2443C>T
  • NM_001352599.2:c.2443C>T
  • NM_001352600.2:c.2443C>T
  • NM_001352601.2:c.2443C>T
  • NM_001352602.2:c.2443C>T
  • NM_001352603.1:c.2443C>T
  • NM_001352604.2:c.2479C>T
  • NM_001379095.1:c.2443C>T
  • NM_002312.3:c.2443C>T
  • NM_206937.2:c.2443C>TMANE SELECT
  • NP_001091738.1:p.Arg815Cys
  • NP_001317524.1:p.Arg748Cys
  • NP_001339527.1:p.Arg815Cys
  • NP_001339528.1:p.Arg815Cys
  • NP_001339529.1:p.Arg815Cys
  • NP_001339530.1:p.Arg815Cys
  • NP_001339531.1:p.Arg815Cys
  • NP_001339532.1:p.Arg815Cys
  • NP_001339533.1:p.Arg827Cys
  • NP_001366024.1:p.Arg815Cys
  • NP_002303.2:p.Arg815Cys
  • NP_996820.1:p.Arg815Cys
  • LRG_79t1:c.2443C>T
  • LRG_79:g.11709C>T
  • LRG_79p1:p.Arg815Cys
  • NC_000013.10:g.108861174G>A
Protein change:
R748C
Links:
dbSNP: rs375437614
NCBI 1000 Genomes Browser:
rs375437614
Molecular consequence:
  • NM_001098268.2:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330595.2:c.2242C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352598.2:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352599.2:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352600.2:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352601.2:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352602.2:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352603.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352604.2:c.2479C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379095.1:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002312.3:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206937.2:c.2443C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003564493Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 28, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003564493.2

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

Description

The c.2443C>T (p.R815C) alteration is located in exon 2 (coding exon 1) of the LIG4 gene. This alteration results from a C to T substitution at nucleotide position 2443, causing the arginine (R) at amino acid position 815 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: Sep 29, 2024