NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met) AND Inborn genetic diseases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 21, 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:: RCV004029982.1

Allele description [Variation Report for NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)]

NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)

Gene:

CCDC88C:coiled-coil domain containing 88C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.11

Genomic location:

Preferred name:

NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)

HGVS:

NC_000014.9:g.91273416C>T
NG_033118.2:g.149429G>A
NM_001080414.4:c.5296G>AMANE SELECT
NP_001073883.2:p.Val1766Met
NC_000014.8:g.91739760C>T
NC_000014.8:g.91739760C>T
NG_033118.1:g.149429G>A
NM_001080414.3:c.5296G>A

Protein change:

V1766M

Links:

dbSNP: rs201931182

NCBI 1000 Genomes Browser:

rs201931182

Molecular consequence:

NM_001080414.4:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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conserved hypothetical protein [Aspergillus terreus NIH2624]
conserved hypothetical protein [Aspergillus terreus NIH2624]
gi|114188735|gb|EAU30435.1||gnl|WGS |ATET_09298

Protein
putative polyol transported protein 2 [Hevea brasiliensis]
putative polyol transported protein 2 [Hevea brasiliensis]
gi|167859969|emb|CAP58707.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004922659	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jun 21, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004922659

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jun 21, 2021)

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, SCV004922659.1

#	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: Oct 26, 2024

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