NM_001037984.3(SLC38A10):c.211G>A (p.Gly71Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 2024
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:: RCV004461416.1

Allele description [Variation Report for NM_001037984.3(SLC38A10):c.211G>A (p.Gly71Ser)]

NM_001037984.3(SLC38A10):c.211G>A (p.Gly71Ser)

Gene:

SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001037984.3(SLC38A10):c.211G>A (p.Gly71Ser)

HGVS:

NC_000017.11:g.81289697C>T
NM_001037984.3:c.211G>AMANE SELECT
NM_138570.4:c.211G>A
NP_001033073.1:p.Gly71Ser
NP_612637.1:p.Gly71Ser
NC_000017.10:g.79263497C>T
NM_001037984.1:c.211G>A

Protein change:

G71S

Molecular consequence:

NM_001037984.3:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_138570.4:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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zb34e07.s1 Soares_parathyroid_tumor_NbHPA Homo sapiens cDNA clone IMAGE:305508 3...
zb34e07.s1 Soares_parathyroid_tumor_NbHPA Homo sapiens cDNA clone IMAGE:305508 3', mRNA sequence
gi|1443146|gnl|dbEST|496158|gb|N898

Nucleotide
PREDICTED: Mus musculus disabled 1 (Dab1), transcript variant X4, mRNA
PREDICTED: Mus musculus disabled 1 (Dab1), transcript variant X4, mRNA
gi|1907154032|ref|XM_036163633.1|

Nucleotide
RecName: Full=Uncharacterized protein C19orf44 homolog
RecName: Full=Uncharacterized protein C19orf44 homolog
gi|150438889|sp|Q922C1.2|CS044_MOUS

Protein
Pycard PYD and CARD domain containing [Mus musculus]
Pycard PYD and CARD domain containing [Mus musculus]
Gene ID:66824

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004951919	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 30, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004951919

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 30, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004951919.1

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

Description

The c.211G>A (p.G71S) alteration is located in exon 2 (coding exon 2) of the SLC38A10 gene. This alteration results from a G to A substitution at nucleotide position 211, causing the glycine (G) at amino acid position 71 to be replaced by a serine (S). 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 7, 2024

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