NM_002768.5(CHMP1A):c.432G>A (p.Glu144=) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 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:: RCV003276439.2

Allele description [Variation Report for NM_002768.5(CHMP1A):c.432G>A (p.Glu144=)]

NM_002768.5(CHMP1A):c.432G>A (p.Glu144=)

Gene:

CHMP1A:charged multivesicular body protein 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_002768.5(CHMP1A):c.432G>A (p.Glu144=)

HGVS:

NC_000016.10:g.89646664C>T
NG_033005.2:g.16122G>A
NM_001083314.4:c.412G>A
NM_002768.5:c.432G>AMANE SELECT
NP_001076783.1:p.Ala138Thr
NP_002759.2:p.Glu144=
NC_000016.9:g.89713072C>T
NM_001083314.1:c.412G>A
NR_046418.3:n.720G>A

Protein change:

A138T

Molecular consequence:

NM_001083314.4:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_046418.3:n.720G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_002768.5:c.432G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform a [Mus...
tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform a [Mus musculus]
gi|255308863|ref|NP_067297.2|

Protein
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Handroanthus impetiginosus]
gi|1027909598|gb|AND99661.1|

Protein
transformer-2 protein homolog alpha isoform 18 [Mus musculus]
transformer-2 protein homolog alpha isoform 18 [Mus musculus]
gi|2236653618|ref|NP_001393060.1|

Protein
RecName: Full=tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4;...
RecName: Full=tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4; AltName: Full=Protein Wuho homolog; Short=mWH; AltName: Full=WD repeat-containing protein 4
gi|229462803|sp|Q9EP82.2|WDR4_MOUSE

Protein
Pum1 pumilio RNA-binding family member 1 [Mus musculus]
Pum1 pumilio RNA-binding family member 1 [Mus musculus]
Gene ID:80912

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003972825	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003972825

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 7, 2023)

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, SCV003972825.2

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

Description

The c.412G>A (p.A138T) alteration is located in exon 5 (coding exon 5) of the CHMP1A gene. This alteration results from a G to A substitution at nucleotide position 412, causing the alanine (A) at amino acid position 138 to be replaced by a threonine (T). 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: May 1, 2024

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