U.S. flag

An official website of the United States government

NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 13, 2023
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:
RCV002100825.6

Allele description [Variation Report for NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=)]

NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=)

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.2041T>C (p.Leu681=)
HGVS:
  • NC_000005.10:g.141573809A>G
  • NG_011594.2:g.50247T>C
  • NM_001079812.3:c.2014T>C
  • NM_001314007.2:c.2041T>C
  • NM_005219.5:c.2041T>CMANE SELECT
  • NP_001073280.1:p.Leu672=
  • NP_001300936.1:p.Leu681=
  • NP_005210.3:p.Leu681=
  • LRG_1117t1:c.2014T>C
  • LRG_1117t2:c.2041T>C
  • LRG_1117:g.50247T>C
  • LRG_1117p1:p.Leu672=
  • LRG_1117p2:p.Leu681=
  • NC_000005.9:g.140953376A>G
Links:
dbSNP: rs953060204
NCBI 1000 Genomes Browser:
rs953060204
Molecular consequence:
  • NM_001079812.3:c.2014T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001314007.2:c.2041T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005219.5:c.2041T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
Name:
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Synonyms:
Seizures, cortical blindness, and microcephaly syndrome
Identifiers:
MONDO: MONDO:0014714; MedGen: C5567650; OMIM: 616632

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002383425Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Oct 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002383425.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024