NM_001110354.2(ZP3):c.108G>C (p.Glu36Asp) AND not provided

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

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 9, 2018
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:: RCV000974417.3

Allele description

NM_001110354.2(ZP3):c.108G>C (p.Glu36Asp)

Gene:

ZP3:zona pellucida glycoprotein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_001110354.2(ZP3):c.108G>C (p.Glu36Asp)

HGVS:

NC_000007.14:g.76425072G>C
NG_033938.1:g.32549G>C
NM_001110354.2:c.108G>CMANE SELECT
NM_007155.6:c.-46G>C
NP_001103824.1:p.Glu36Asp
NC_000007.13:g.76054389G>C
NM_001110354.1:c.108G>C

Protein change:

E36D

Links:

dbSNP: rs117869702

NCBI 1000 Genomes Browser:

rs117869702

Molecular consequence:

NM_007155.6:c.-46G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001110354.2:c.108G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: mitogen-activated protein kinase 9 isoform X1 [Bison bison bison]
PREDICTED: mitogen-activated protein kinase 9 isoform X1 [Bison bison bison]
gi|742231451|ref|XP_010828973.1|

Protein
chloride intracellular channel protein 1 [Bos taurus]
chloride intracellular channel protein 1 [Bos taurus]
gi|62751970|ref|NP_001015608.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001122239	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jun 9, 2018)	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

SCV001122239

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jun 9, 2018)

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, SCV001122239.1

#	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: Dec 24, 2023

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