NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs) AND Autosomal dominant nonsyndromic hearing loss 44

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 27, 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:: RCV002259400.1

Allele description [Variation Report for NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)]

NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)

Gene:

CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q28

Genomic location:

Preferred name:

NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)

HGVS:

NC_000003.12:g.191389529_191389559del
NG_008994.1:g.65445_65475del
NM_174908.4:c.828_858del
NM_178335.3:c.1356_1386delMANE SELECT
NP_777568.1:p.Asp276fs
NP_848018.1:p.Asp452fs
LRG_1382t1:c.1356_1386del
LRG_1382:g.65445_65475del
LRG_1382p1:p.Asp452fs
NC_000003.11:g.191107318_191107348del

Protein change:

D276fs

Links:

dbSNP: rs2108677025

NCBI 1000 Genomes Browser:

rs2108677025

Molecular consequence:

NM_174908.4:c.828_858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178335.3:c.1356_1386del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

C-terminal protein elongation [Variation Ontology: 0125]

Observations:

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 44
Synonyms:: Deafness, autosomal dominant 44
Identifiers:: MONDO: MONDO:0011832; MedGen: C1843895; Orphanet: 90635; OMIM: 607453

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002041905	Genetics Department, Hospital Ramon y Cajal-IRYCIS	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Pathogenic (Dec 27, 2021)	germline, not applicable	clinical testing, in vitro	PubMed (3) [See all records that cite these PMIDs] 17503326, 12483295, 30311386

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002041905

Genetics Department, Hospital Ramon y Cajal-IRYCIS

criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)

Pathogenic
(Dec 27, 2021)

germline, not applicable

clinical testing, in vitro

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
caucasian	germline	yes	3	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.

Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA.

Am J Hum Genet. 2007 Jun;80(6):1076-89. Epub 2007 Apr 24.

PubMed [citation]

PMID:: 17503326
PMCID:: PMC1867096

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F.

Hum Genet. 2003 Jan;112(1):24-8. Epub 2002 Oct 16.

PubMed [citation]

PMID:: 12483295

See all PubMed Citations (3)

Details of each submission

From Genetics Department, Hospital Ramon y Cajal-IRYCIS, SCV002041905.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (3)
2	caucasian	3	not provided	not provided	clinical testing	PubMed (3)

Description

Segregation of the variant on the family by Sanger Sequencing

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		3	not provided	1	not provided

Last Updated: Dec 24, 2023

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