NM_005548.3(KARS1):c.223-8_223-6del AND not provided

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

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Mar 1, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000959292.6

Allele description

NM_005548.3(KARS1):c.223-8_223-6del

Gene:

KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q23.1

Genomic location:

Preferred name:

NM_005548.3(KARS1):c.223-8_223-6del

HGVS:

NC_000016.10:g.75640355_75640357del
NC_000016.10:g.75640370_75640372del
NG_028025.1:g.12331_12333del
NM_001130089.2:c.307-8_307-6del
NM_001378148.1:c.-246-8_-246-6del
NM_005548.3:c.223-8_223-6delMANE SELECT
LRG_366t1:c.307-8_307-6del
LRG_366:g.12331_12333del
NC_000016.9:g.75674268_75674270del
NM_001130089.1:c.307-8_307-6del
NM_001130089.1:c.307-8_307-6delTTT

Links:

dbSNP: rs370077957

NCBI 1000 Genomes Browser:

rs370077957

Molecular consequence:

NM_001130089.2:c.307-8_307-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001378148.1:c.-246-8_-246-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_005548.3:c.223-8_223-6del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV001106191	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (May 30, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004145047	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001106191

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(May 30, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004145047

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Mar 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001106191.1

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004145047.3

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

Description

KARS1: BP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 10, 2024

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