NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) AND not provided

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 27, 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:: RCV003718253.1

Allele description

NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)

Gene:

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

Variant type:

Indel

Cytogenetic location:

14q32.11

Genomic location:

Preferred name:

NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)

HGVS:

NC_000014.9:g.91272736_91272737delinsAG
NG_033118.2:g.150108_150109delinsCT
NM_001080414.4:c.5975_5976delinsCTMANE SELECT
NP_001073883.2:p.Leu1992Pro
NC_000014.8:g.91739080_91739081delinsAG
NG_033118.1:g.150108_150109delinsCT
NM_001080414.2:c.5975_5976delinsCT
p.LEU1992PRO

Protein change:

L1992P

Links:

dbSNP: rs1555413299

NCBI 1000 Genomes Browser:

rs1555413299

Molecular consequence:

NM_001080414.4:c.5975_5976delinsCT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Mus musculus proviral integration site 3, mRNA (cDNA clone MGC:37517 IMAGE:49855...
Mus musculus proviral integration site 3, mRNA (cDNA clone MGC:37517 IMAGE:4985551), complete cds
gi|20071852|gb|BC026639.1|

Nucleotide
PRMT7 protein arginine methyltransferase 7 [Homo sapiens]
PRMT7 protein arginine methyltransferase 7 [Homo sapiens]
Gene ID:54496

Gene
RIKEN cDNA 4833442J19 gene [Mus musculus]
RIKEN cDNA 4833442J19 gene [Mus musculus]
gi|28913747|gb|AAH48711.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004507865	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 27, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004507865

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 27, 2024)

germline

clinical testing

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004507865.1

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

#	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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