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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

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

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