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NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 28, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000175088.6

Allele description [Variation Report for NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)]

NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)

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.2282C>T (p.Ser761Leu)
HGVS:
  • NC_000006.12:g.135431299G>A
  • NG_008643.2:g.71467C>T
  • NM_001134830.2:c.2282C>T
  • NM_001134831.2:c.2282C>TMANE SELECT
  • NM_001134832.2:c.2282C>T
  • NM_001350503.2:c.2282C>T
  • NM_001350504.2:c.2282C>T
  • NM_017651.5:c.2282C>T
  • NP_001128302.1:p.Ser761Leu
  • NP_001128303.1:p.Ser761Leu
  • NP_001128304.1:p.Ser761Leu
  • NP_001337432.1:p.Ser761Leu
  • NP_001337433.1:p.Ser761Leu
  • NP_060121.3:p.Ser761Leu
  • NP_060121.3:p.Ser761Leu
  • NC_000006.11:g.135752437G>A
  • NM_017651.4:c.2282C>T
  • Q8N157:p.Ser761Leu
Protein change:
S761L; SER761LEU
Links:
UniProtKB: Q8N157#VAR_037895; OMIM: 608894.0011; dbSNP: rs794727174
NCBI 1000 Genomes Browser:
rs794727174
Molecular consequence:
  • NM_001134830.2:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000226516Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Jul 18, 2014) 		germlineclinical testing

Citation Link,

SCV002577138GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 28, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000226516.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV002577138.2

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

Description

Observed in homozygous state in siblings with retinitis pigmentosa, however, these siblings were homozygous for an additional variant in AHI1 which may have also contributed to the clinical features (Elsayed et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25616960, 16453322, 28442542)

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

Last Updated: Sep 29, 2024