NC_000006.11:g.(?_45290616)_(45631495_?)dup AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 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:: RCV001389613.5

Allele description [Variation Report for NC_000006.11:g.(?_45290616)_(45631495_?)dup]

NC_000006.11:g.(?_45290616)_(45631495_?)dup

Genes:: RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]
Variant type:: Duplication
Cytogenetic location:: 6p21.1
Genomic location:: Chr6: 45290616 - 45631495 (on Assembly GRCh37)
Preferred name:: NC_000006.11:g.(?_45290616)_(45631495_?)dup
HGVS:: NC_000006.11:g.(?_45290616)_(45631495_?)dup
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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sucrose phosphorylase [Streptococcus pneumoniae 4027-06]
sucrose phosphorylase [Streptococcus pneumoniae 4027-06]
gi|353746866|gb|EHD27526.1||gnl|WGS |SPAR123_1787

Protein
melibiase family protein [Streptococcus pneumoniae 4027-06]
melibiase family protein [Streptococcus pneumoniae 4027-06]
gi|353746871|gb|EHD27531.1||gnl|WGS |SPAR123_1792

Protein
Proteus mirabilis TolA (tolA) gene, partial cds
Proteus mirabilis TolA (tolA) gene, partial cds
gi|2843328534|gb|PQ450304.1|

Nucleotide
Streptococcus suis 42A
Streptococcus suis 42A
Streptococcus suis 42A Genome sequencing and assembly

BioProject
Plasmodium falciparum FCH/4, whole genome shotgun sequencing project
Plasmodium falciparum FCH/4, whole genome shotgun sequencing project
gi|574656550|gb|AOPV00000000.1|AOPV 000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001591016	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 12, 2021)	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

SCV001591016

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 12, 2021)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001591016.2

#	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: Sep 29, 2024

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