NM_145331.3(MAP3K7):c.1640+10_1640+16dup AND not provided

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 28, 2023
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:: RCV003829446.1

Allele description

NM_145331.3(MAP3K7):c.1640+10_1640+16dup

Gene:

MAP3K7:mitogen-activated protein kinase kinase kinase 7 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6q15

Genomic location:

Preferred name:

NM_145331.3(MAP3K7):c.1640+10_1640+16dup

HGVS:

NC_000006.12:g.90518435_90518441dup
NG_011966.2:g.73752_73758dup
NM_003188.4:c.1559+10_1559+16dup
NM_145331.3:c.1640+10_1640+16dupMANE SELECT
NM_145332.3:c.1524+821_1524+827dup
NM_145333.3:c.1443+821_1443+827dup
NC_000006.11:g.91228149_91228150insATAAAAA
NC_000006.11:g.91228154_91228160dup

Molecular consequence:

NM_003188.4:c.1559+10_1559+16dup - intron variant - [Sequence Ontology: SO:0001627]
NM_145331.3:c.1640+10_1640+16dup - intron variant - [Sequence Ontology: SO:0001627]
NM_145332.3:c.1524+821_1524+827dup - intron variant - [Sequence Ontology: SO:0001627]
NM_145333.3:c.1443+821_1443+827dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004627893	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Sep 28, 2023)	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

SCV004627893

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Sep 28, 2023)

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, SCV004627893.1

#	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: Mar 5, 2024

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