NM_001365480.1(CCDC88A):c.1305_1306del (p.Gln435fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 25, 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:: RCV001984750.3

Allele description [Variation Report for NM_001365480.1(CCDC88A):c.1305_1306del (p.Gln435fs)]

NM_001365480.1(CCDC88A):c.1305_1306del (p.Gln435fs)

Gene:

CCDC88A:coiled-coil domain containing 88A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p16.1

Genomic location:

Preferred name:

NM_001365480.1(CCDC88A):c.1305_1306del (p.Gln435fs)

HGVS:

NC_000002.12:g.55343676_55343677del
NG_031944.1:g.81246_81247del
NM_001135597.2:c.1305_1306del
NM_001254943.2:c.1305_1306del
NM_001365480.1:c.1305_1306delMANE SELECT
NM_018084.5:c.1305_1306del
NP_001129069.1:p.Gln435fs
NP_001241872.1:p.Gln435fs
NP_001352409.1:p.Gln435fs
NP_060554.3:p.Gln435fs
NC_000002.11:g.55570811_55570812del
NC_000002.11:g.55570812_55570813del

Protein change:

Q435fs

Links:

dbSNP: rs2104720906

NCBI 1000 Genomes Browser:

rs2104720906

Molecular consequence:

NM_001135597.2:c.1305_1306del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001254943.2:c.1305_1306del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365480.1:c.1305_1306del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018084.5:c.1305_1306del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002208812	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 25, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26917597, 30392057, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002208812

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 25, 2021)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG.

Brain. 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014. Epub 2016 Feb 25.

PubMed [citation]

PMID:: 26917597
PMCID:: PMC4806221

A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.

Abdulkareem AA, Abulnaja KO, Jan MM, Karim S, Rasool M, Ansari SA, Chaudhary AG, Al-Qahtani MH, Naseer MI.

Neurol Sci. 2019 Feb;40(2):299-303. doi: 10.1007/s10072-018-3626-5. Epub 2018 Nov 3.

PubMed [citation]

PMID:: 30392057

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002208812.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CCDC88A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln435Hisfs*5) in the CCDC88A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC88A are known to be pathogenic (PMID: 26917597, 30392057).

#	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: Feb 28, 2024

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