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NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) AND Hearing loss, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 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:
RCV004719034.1

Allele description [Variation Report for NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)]

NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)

Gene:
PDZD7:PDZ domain containing 7 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
HGVS:
  • NC_000010.11:g.101030060dup
  • NG_028030.1:g.6104dup
  • NM_001195263.2:c.166dupMANE SELECT
  • NM_001351044.2:c.166dup
  • NM_024895.5:c.166dup
  • NP_001182192.1:p.Arg56fs
  • NP_001337973.1:p.Arg56fs
  • NP_079171.1:p.Arg56fs
  • NC_000010.10:g.102789810_102789811insG
  • NC_000010.10:g.102789817dup
  • NM_001195263.1:c.166dup
  • NM_001195263.1:c.166dupC
Protein change:
R56fs
Links:
OMIM: 612971.0001; dbSNP: rs587776894
NCBI 1000 Genomes Browser:
rs587776894
Molecular consequence:
  • NM_001195263.2:c.166dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351044.2:c.166dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024895.5:c.166dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hearing loss, autosomal recessive
Synonyms:
Deafness, autosomal recessive; Autosomal recessive nonsyndromic deafness; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019588; MedGen: C1846647; Orphanet: 90635; Orphanet: 90636; OMIM: 607197; OMIM: PS220290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005324780Laboratory of Human Genetics, Universidade de São Paulo
criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)		PATHOGENIC
(May 1, 2024) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes21not providednot providedyesresearch

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 Laboratory of Human Genetics, Universidade de São Paulo, SCV005324780.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesresearch PubMed (1)

Description

The PDZD7:NM_001195263.2:c.166dup is a null variant in a gene where loss of function is a known mechanism of disease (PVS1), it is associated with a recessive disorder, detected in trans with a pathogenic variant, in compound heterozygous state in affected cases (PM3), has extremely low frequency in gnomAD population databases (PM2), reported in ClinVar in affected individuals (PP5); here it was found with c.2211del in two affected siblings born from unrelated couple.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not provided1not provided

Last Updated: Feb 25, 2025