NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) AND Leber congenital amaurosis

Clinical significance:Pathogenic (Last evaluated: Jul 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001262092.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)]

NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

Gene:
AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
HGVS:
  • NC_000006.12:g.135433119C>T
  • NG_008643.2:g.69647G>A
  • NM_001134830.2:c.2174G>A
  • NM_001134831.2:c.2174G>AMANE SELECT
  • NM_001134832.2:c.2174G>A
  • NM_001350503.2:c.2174G>A
  • NM_001350504.2:c.2174G>A
  • NM_017651.4:c.2174G>A
  • NM_017651.5:c.2174G>A
  • NP_001128302.1:p.Trp725Ter
  • NP_001128303.1:p.Trp725Ter
  • NP_001128304.1:p.Trp725Ter
  • NP_001337432.1:p.Trp725Ter
  • NP_001337433.1:p.Trp725Ter
  • NP_060121.3:p.Trp725Ter
  • NP_060121.3:p.Trp725Ter
  • NC_000006.11:g.135754257C>T
  • NM_001134831.1:c.2174G>A
Protein change:
W725*
Links:
dbSNP: rs587783013
NCBI 1000 Genomes Browser:
rs587783013
Molecular consequence:
  • NM_001134830.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134831.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134832.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350503.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350504.2:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.4:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.2174G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001370768Institute of Vision Research, Yonsei University College of Medicinecriteria provided, single submitter
Pathogenic
(Jul 6, 2020)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.

Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J.

Mol Vis. 2020;26:26-35.

PubMed [citation]
PMID:
32165824
PMCID:
PMC7043639

Details of each submission

From Institute of Vision Research, Yonsei University College of Medicine, SCV001370768.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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