NM_000170.3(GLDC):c.1974C>A (p.Ala658=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 11, 2020
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:: RCV001568052.3

Allele description [Variation Report for NM_000170.3(GLDC):c.1974C>A (p.Ala658=)]

NM_000170.3(GLDC):c.1974C>A (p.Ala658=)

Gene:

GLDC:glycine decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.1

Genomic location:

Preferred name:

NM_000170.3(GLDC):c.1974C>A (p.Ala658=)

HGVS:

NC_000009.12:g.6558637G>T
NG_016397.1:g.92056C>A
NM_000170.3:c.1974C>AMANE SELECT
NP_000161.2:p.Ala658=
LRG_643t1:c.1974C>A
LRG_643:g.92056C>A
NC_000009.11:g.6558637G>T
NM_000170.2:c.1974C>A

Links:

dbSNP: rs534062853

NCBI 1000 Genomes Browser:

rs534062853

Molecular consequence:

NM_000170.3:c.1974C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Lama glama clone A6 immunoglobulin heavy chain variable region mRNA, partial cds
Lama glama clone A6 immunoglobulin heavy chain variable region mRNA, partial cds
gi|2648742848|gb|PP062736.1|

Nucleotide
SAMD00143242 (1)
SRA
SRX4154166 (1)
SRA
Cycloramphus 16S ribosomal RNA gene, partial sequence; mitochondrial.
Cycloramphus 16S ribosomal RNA gene, partial sequence; mitochondrial.
PopSet: 334261544

PopSet
CD55 [Opisthocomus hoazin]
CD55 [Opisthocomus hoazin]
Gene ID:104336170

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001791851	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 11, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001791851

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jun 11, 2020)

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

Details of each submission

From GeneDx, SCV001791851.1

#	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

Last Updated: Sep 29, 2024

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