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NM_001199799.2(ILDR1):c.1165G>A (p.Ala389Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2022
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:
RCV002579454.2

Allele description [Variation Report for NM_001199799.2(ILDR1):c.1165G>A (p.Ala389Thr)]

NM_001199799.2(ILDR1):c.1165G>A (p.Ala389Thr)

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.1165G>A (p.Ala389Thr)
HGVS:
  • NC_000003.12:g.121993584C>T
  • NG_031870.2:g.71971G>A
  • NM_001199799.2:c.1165G>AMANE SELECT
  • NM_001199800.2:c.898G>A
  • NM_175924.4:c.1033G>A
  • NP_001186728.1:p.Ala389Thr
  • NP_001186729.1:p.Ala300Thr
  • NP_787120.1:p.Ala345Thr
  • LRG_1377t1:c.1165G>A
  • LRG_1377:g.71971G>A
  • LRG_1377p1:p.Ala389Thr
  • NC_000003.11:g.121712431C>T
  • NM_001199799.1:c.1165G>A
Protein change:
A300T
Links:
dbSNP: rs146697721
NCBI 1000 Genomes Browser:
rs146697721
Molecular consequence:
  • NM_001199799.2:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199800.2:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175924.4:c.1033G>A - 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
SCV003739737Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 25, 2022) 		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, SCV003739737.2

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

Description

The c.1165G>A (p.A389T) alteration is located in exon 7 (coding exon 7) of the ILDR1 gene. This alteration results from a G to A substitution at nucleotide position 1165, causing the alanine (A) at amino acid position 389 to be replaced by a threonine (T). 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