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NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala) AND Hearing impairment

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2021
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:
RCV001375252.3

Allele description [Variation Report for NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)]

NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)

Genes:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
LOC126806252:BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)
HGVS:
  • NC_000002.12:g.73601210T>C
  • NG_011690.1:g.220458T>C
  • NM_001378454.1:c.11888T>CMANE SELECT
  • NM_015120.4:c.11891T>C
  • NP_001365383.1:p.Val3963Ala
  • NP_055935.4:p.Val3964Ala
  • LRG_741t1:c.11891T>C
  • LRG_741:g.220458T>C
  • LRG_741p1:p.Val3964Ala
  • NC_000002.11:g.73828337T>C
  • NM_001378454.1:c.11888T>C
Protein change:
V3963A
Links:
dbSNP: rs201777220
NCBI 1000 Genomes Browser:
rs201777220
Molecular consequence:
  • NM_001378454.1:c.11888T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.11891T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing impairment
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572050Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)		Uncertain significance
(Apr 12, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center, SCV001572050.2

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

Description

PM2_Moderate, PP3_Supporting

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

Last Updated: Sep 29, 2024