NM_001300905.2(BAZ2A):c.1898A>C (p.Gln633Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 9, 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:: RCV004242530.1

Allele description [Variation Report for NM_001300905.2(BAZ2A):c.1898A>C (p.Gln633Pro)]

NM_001300905.2(BAZ2A):c.1898A>C (p.Gln633Pro)

Gene:

BAZ2A:bromodomain adjacent to zinc finger domain 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

Preferred name:

NM_001300905.2(BAZ2A):c.1898A>C (p.Gln633Pro)

HGVS:

NC_000012.12:g.56609930T>G
NM_001300905.2:c.1898A>CMANE SELECT
NM_001351156.2:c.1808A>C
NM_013449.4:c.1904A>C
NP_001287834.1:p.Gln633Pro
NP_001338085.1:p.Gln603Pro
NP_038477.2:p.Gln635Pro
NC_000012.11:g.57003714T>G
NM_013449.3:c.1904A>C

Protein change:

Q603P

Molecular consequence:

NM_001300905.2:c.1898A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001351156.2:c.1808A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_013449.4:c.1904A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Oreohelix sp. CH15-04b 5.8S ribosomal RNA gene, partial sequence; internal trans...
Oreohelix sp. CH15-04b 5.8S ribosomal RNA gene, partial sequence; internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1798053250|gb|MN695705.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003757334	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 9, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003757334

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 9, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003757334.2

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

Description

The c.1904A>C (p.Q635P) alteration is located in exon 10 (coding exon 10) of the BAZ2A gene. This alteration results from a A to C substitution at nucleotide position 1904, causing the glutamine (Q) at amino acid position 635 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

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