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NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) AND Autosomal dominant nonsyndromic hearing loss 1

Germline classification:
Likely benign (1 submission)
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:
RCV001002757.1

Allele description [Variation Report for NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe)]

NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe)

Gene:
DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe)
HGVS:
  • NC_000005.10:g.141573843C>A
  • NG_011594.2:g.50213G>T
  • NM_001079812.3:c.1980G>T
  • NM_001314007.2:c.2007G>T
  • NM_005219.5:c.2007G>TMANE SELECT
  • NP_001073280.1:p.Leu660Phe
  • NP_001300936.1:p.Leu669Phe
  • NP_005210.3:p.Leu669Phe
  • LRG_1117t1:c.1980G>T
  • LRG_1117t2:c.2007G>T
  • LRG_1117:g.50213G>T
  • LRG_1117p1:p.Leu660Phe
  • LRG_1117p2:p.Leu669Phe
  • NC_000005.9:g.140953410C>A
  • NC_000005.9:g.140953410C>A
  • NG_011594.1:g.50213G>T
Protein change:
L660F
Links:
dbSNP: rs1284785470
NCBI 1000 Genomes Browser:
rs1284785470
Molecular consequence:
  • NM_001079812.3:c.1980G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001314007.2:c.2007G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005219.5:c.2007G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 1
Synonyms:
KONIGSMARK SYNDROME; Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
Identifiers:
MONDO: MONDO:0007424; MedGen: C1852282; Orphanet: 90635; OMIM: 124900

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992400Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)		Likely benignpaternalcase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalno21not providednot providednot providedcase-control

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 Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV000992400.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalnonot providednot providednot provided2not provided1not provided

Last Updated: Sep 29, 2024