NM_001371986.1(UNC80):c.7435del (p.Tyr2479fs) AND Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 2, 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:: RCV002294556.2

Allele description [Variation Report for NM_001371986.1(UNC80):c.7435del (p.Tyr2479fs)]

NM_001371986.1(UNC80):c.7435del (p.Tyr2479fs)

Gene:

UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q34

Genomic location:

Preferred name:

NM_001371986.1(UNC80):c.7435del (p.Tyr2479fs)

HGVS:

NC_000002.12:g.209954248del
NG_051361.1:g.187324del
NM_001371986.1:c.7435delMANE SELECT
NM_032504.2:c.7237del
NM_182587.4:c.7222del
NP_001358915.1:p.Tyr2479fs
NP_115893.1:p.Tyr2413fs
NP_872393.3:p.Tyr2408fs
NC_000002.11:g.210818972del
NC_000002.12:g.209954248delT

Protein change:

Y2408fs

Molecular consequence:

NM_001371986.1:c.7435del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032504.2:c.7237del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_182587.4:c.7222del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2)
Identifiers:: MONDO: MONDO:0014777; MedGen: C4225203; Orphanet: 371364; OMIM: 616801

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002587038	UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 2, 2021)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002587038

UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 2, 2021)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	1	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - CSER_NCGENES_2, SCV002587038.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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