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NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2025
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:
RCV002942871.4

Allele description [Variation Report for NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)]

NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)

Gene:
DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)
HGVS:
  • NC_000005.10:g.141573699AGG[2]
  • NG_011594.2:g.50351TCC[2]
  • NM_001079812.3:c.2118TCC[2]
  • NM_001314007.2:c.2145TCC[2]
  • NM_005219.5:c.2145TCC[2]MANE SELECT
  • NP_001073280.1:p.Pro710del
  • NP_001300936.1:p.Pro719del
  • NP_005210.3:p.Pro719del
  • LRG_1117t1:c.2118TCC[2]
  • LRG_1117t2:c.2145TCC[2]
  • LRG_1117:g.50351TCC[2]
  • LRG_1117p1:p.Pro710del
  • LRG_1117p2:p.Pro719del
  • NC_000005.9:g.140953264_140953266del
  • NC_000005.9:g.140953266AGG[2]
Protein change:
P710del
Molecular consequence:
  • NM_001079812.3:c.2118TCC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001314007.2:c.2145TCC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_005219.5:c.2145TCC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003272915Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 6, 2025) 		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, SCV003272915.3

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

Description

This variant, c.2151_2153del, results in the deletion of 1 amino acid(s) of the DIAPH1 protein (p.Pro719del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs747273584, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 11, 2025