NM_199511.3(CCDC80):c.304G>A (p.Val102Met) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 19, 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:: RCV004427769.1

Allele description [Variation Report for NM_199511.3(CCDC80):c.304G>A (p.Val102Met)]

NM_199511.3(CCDC80):c.304G>A (p.Val102Met)

Gene:

CCDC80:coiled-coil domain containing 80 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.2

Genomic location:

Preferred name:

NM_199511.3(CCDC80):c.304G>A (p.Val102Met)

HGVS:

NC_000003.12:g.112639602C>T
NM_199511.3:c.304G>AMANE SELECT
NM_199512.3:c.304G>A
NP_955805.1:p.Val102Met
NP_955806.1:p.Val102Met
NC_000003.11:g.112358449C>T
NM_199511.1:c.304G>A

Protein change:

V102M

Molecular consequence:

NM_199511.3:c.304G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_199512.3:c.304G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mup-ps5 major urinary protein, pseudogene 5 [Mus musculus]
Mup-ps5 major urinary protein, pseudogene 5 [Mus musculus]
Gene ID:115066721

Gene
Mup-ps5 AND (alive[prop]) (1)
Gene
Neurergus strauchii barani isolate Nsb_85_KM KIAA1239 gene, partial cds
Neurergus strauchii barani isolate Nsb_85_KM KIAA1239 gene, partial cds
gi|673459410|gb|KF564188.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004922990	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jan 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004922990

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jan 19, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004922990.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024

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