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NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln) AND Deafness, X-linked 5

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 21, 2024
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:
RCV004584805.1

Allele description [Variation Report for NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)]

NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)

Genes:
RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.1
Genomic location:
Preferred name:
NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)
HGVS:
  • NC_000023.11:g.130138667C>T
  • NG_013217.1:g.32167G>A
  • NM_001130847.4:c.893G>A
  • NM_004208.4:c.893G>AMANE SELECT
  • NM_145812.3:c.881G>A
  • NP_001124319.1:p.Arg298Gln
  • NP_004199.1:p.Arg298Gln
  • NP_665811.1:p.Arg294Gln
  • NC_000023.10:g.129272642C>T
  • NM_004208.3:c.893G>A
  • NR_132647.2:n.935G>A
Protein change:
R294Q
Links:
dbSNP: rs766786579
NCBI 1000 Genomes Browser:
rs766786579
Molecular consequence:
  • NM_001130847.4:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004208.4:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145812.3:c.881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_132647.2:n.935G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Deafness, X-linked 5 (DFNX5)
Synonyms:
AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY; DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY
Identifiers:
MedGen: C1845095; Orphanet: 139583; OMIM: 300614

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005073753Laboratory of Prof. Karen Avraham, Tel Aviv University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 21, 2024) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Jewishgermlineyes1not providednot providednot providednot providedresearch

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

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV005073753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Jewish1not providednot providedresearch PubMed (1)

Description

According to Deafness Variation Database

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024