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NM_001199799.2(ILDR1):c.1031G>A (p.Arg344Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2017
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:
RCV000520819.1

Allele description [Variation Report for NM_001199799.2(ILDR1):c.1031G>A (p.Arg344Lys)]

NM_001199799.2(ILDR1):c.1031G>A (p.Arg344Lys)

Gene:
ILDR1:immunoglobulin like domain containing receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.33
Genomic location:
Preferred name:
NM_001199799.2(ILDR1):c.1031G>A (p.Arg344Lys)
HGVS:
  • NC_000003.12:g.121993718C>T
  • NG_031870.1:g.33563G>A
  • NG_031870.2:g.71837G>A
  • NM_001199799.2:c.1031G>AMANE SELECT
  • NM_001199800.2:c.764G>A
  • NM_175924.4:c.899G>A
  • NP_001186728.1:p.Arg344Lys
  • NP_001186729.1:p.Arg255Lys
  • NP_787120.1:p.Arg300Lys
  • LRG_1377t1:c.1031G>A
  • LRG_1377:g.71837G>A
  • LRG_1377p1:p.Arg344Lys
  • NC_000003.11:g.121712565C>T
  • NM_001199799.1:c.1031G>A
Protein change:
R255K
Links:
dbSNP: rs1297610101
NCBI 1000 Genomes Browser:
rs1297610101
Molecular consequence:
  • NM_001199799.2:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199800.2:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175924.4:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000620030GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 18, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000620030.1

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

Description

The R344K variant in the ILDR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R344K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R344K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function.We interpret R344K as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022