NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) AND not specified

Clinical significance:Benign (Last evaluated: May 7, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037119.5

Allele description [Variation Report for NM_001199799.2(ILDR1):c.726G>A (p.Ala242=)]

NM_001199799.2(ILDR1):c.726G>A (p.Ala242=)

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.726G>A (p.Ala242=)
HGVS:
  • NC_000003.12:g.121994234C>T
  • NG_031870.1:g.33047G>A
  • NG_031870.2:g.71321G>A
  • NM_001199799.2:c.726G>AMANE SELECT
  • NM_001199800.2:c.459G>A
  • NM_175924.4:c.647-264G>A
  • NP_001186728.1:p.Ala242=
  • NP_001186729.1:p.Ala153=
  • LRG_1377t1:c.726G>A
  • LRG_1377:g.71321G>A
  • LRG_1377p1:p.Ala242=
  • NC_000003.11:g.121713081C>T
  • NM_001199799.1:c.726G>A
  • c.726G>A
  • p.Ala242Ala
Links:
dbSNP: rs114464909
NCBI 1000 Genomes Browser:
rs114464909
Molecular consequence:
  • NM_175924.4:c.647-264G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199799.2:c.726G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001199800.2:c.459G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
12

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060776Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 7, 2012)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1212not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060776.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided12not providednot providedclinical testing PubMed (1)

Description

"Ala242Ala in Exon 06 of ILDR1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 5.1% (6/118) of chro mosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/pro jects/SNP; rs114464909)."

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided12not provided12not provided

Last Updated: Sep 25, 2021

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