NM_001365480.1(CCDC88A):c.4161_4162dup (p.Pro1388fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 13, 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:: RCV001984956.2

Allele description

NM_001365480.1(CCDC88A):c.4161_4162dup (p.Pro1388fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

2p16.1

Genomic location:

Preferred name:

NM_001365480.1(CCDC88A):c.4161_4162dup (p.Pro1388fs)

HGVS:

NC_000002.12:g.55309172GA[3]
NG_031944.1:g.115747TC[3]
NM_001135597.2:c.4158_4159dup
NM_001254943.2:c.4158_4159dup
NM_001365480.1:c.4161_4162dupMANE SELECT
NM_018084.5:c.4161_4162dup
NP_001129069.1:p.Pro1387fs
NP_001241872.1:p.Pro1387fs
NP_001352409.1:p.Pro1388fs
NP_060554.3:p.Pro1388fs
NC_000002.11:g.55536307_55536308insGA
NC_000002.11:g.55536308GA[3]

Protein change:

P1387fs

Links:

dbSNP: rs2104596456

NCBI 1000 Genomes Browser:

rs2104596456

Molecular consequence:

NM_001135597.2:c.4158_4159dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001254943.2:c.4158_4159dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001365480.1:c.4161_4162dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018084.5:c.4161_4162dup - 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
SCV002215465	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 13, 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

SCV002215465

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 13, 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, SCV002215465.2

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

Description

This sequence change creates a premature translational stop signal (p.Pro1387Leufs*12) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CCDC88A-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Dec 24, 2023

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