NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) AND not provided

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

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Jul 1, 2024
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:: RCV001672942.24

Allele description

NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])

Gene:

KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])

HGVS:

NC_000008.10:g.41790687_41790698del
NC_000008.11:g.41933180_41933191del
NG_042093.1:g.123847_123858del
NM_006766.5:c.5040_5051delMANE SELECT
NP_006757.2:p.1677_1680QQPQ[1]
NC_000008.10:g.41790687_41790698del
NC_000008.10:g.41790687_41790698delTGCGGCTGCTGT
NC_000008.10:g.41790698_41790709del
NM_006766.3:c.5040_5051del
NM_006766.3:c.5040_5051del12

Links:

dbSNP: rs548231613

NCBI 1000 Genomes Browser:

rs548231613

Molecular consequence:

NM_006766.5:c.5040_5051del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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phospholipid-transporting ATPase ABCA7 isoform X8 [Homo sapiens]
phospholipid-transporting ATPase ABCA7 isoform X8 [Homo sapiens]
gi|2217318848|ref|XP_047294008.1|

Protein
Chain A, ATX1 COPPER CHAPERONE
Chain A, ATX1 COPPER CHAPERONE
gi|1938921590|pdb|1FD8|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001888072	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Feb 20, 2019)	germline	clinical testing	Citation Link,
SCV002332350	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004010782	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001888072

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Feb 20, 2019)

germline

clinical testing

Citation Link,

SCV002332350

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 29, 2024)

germline

clinical testing

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

SCV004010782

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely benign
(Jul 1, 2024)

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	6	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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From GeneDx, SCV001888072.1

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

#	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		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002332350.3

#	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, SCV004010782.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	not provided

Description

KAT6A: BS1

#	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		6	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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