NM_000845.3(GRM8):c.773G>A (p.Arg258Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 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:: RCV004356014.1

Allele description [Variation Report for NM_000845.3(GRM8):c.773G>A (p.Arg258Lys)]

NM_000845.3(GRM8):c.773G>A (p.Arg258Lys)

Gene:

GRM8:glutamate metabotropic receptor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.33

Genomic location:

Preferred name:

NM_000845.3(GRM8):c.773G>A (p.Arg258Lys)

HGVS:

NC_000007.14:g.126904638C>T
NG_029532.1:g.352737G>A
NG_029532.2:g.353303G>A
NM_000845.3:c.773G>AMANE SELECT
NM_001127323.1:c.773G>A
NM_001127326.1:c.773G>A
NM_001371083.1:c.773G>A
NM_001371084.1:c.773G>A
NM_001371085.1:c.773G>A
NM_001371086.1:c.773G>A
NM_001371087.1:c.158G>A
NM_001371088.1:c.773G>A
NP_000836.2:p.Arg258Lys
NP_001120795.1:p.Arg258Lys
NP_001120798.1:p.Arg258Lys
NP_001358012.1:p.Arg258Lys
NP_001358013.1:p.Arg258Lys
NP_001358014.1:p.Arg258Lys
NP_001358015.1:p.Arg258Lys
NP_001358016.1:p.Arg53Lys
NP_001358017.1:p.Arg258Lys
NC_000007.13:g.126544692C>T
NR_028041.1:n.1084G>A
NR_163849.1:n.1229G>A
NR_163850.1:n.408G>A

Protein change:

R258K

Molecular consequence:

NM_000845.3:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127323.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127326.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371083.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371084.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371085.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371086.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371087.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371088.1:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_028041.1:n.1084G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163849.1:n.1229G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163850.1:n.408G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mus musculus MEIR1 treanscription regulator (Mier1), transcript variant 6, mRNA
Mus musculus MEIR1 treanscription regulator (Mier1), transcript variant 6, mRNA
gi|2220191954|ref|NM_001404080.1|

Nucleotide
PREDICTED: Homo sapiens PAK1 interacting protein 1 (PAK1IP1), transcript variant...
PREDICTED: Homo sapiens PAK1 interacting protein 1 (PAK1IP1), transcript variant X3, mRNA
gi|2462496988|ref|XM_054332170.1|

Nucleotide
PREDICTED: Mus musculus pumilio RNA-binding family member 1 (Pum1), transcript v...
PREDICTED: Mus musculus pumilio RNA-binding family member 1 (Pum1), transcript variant X21, mRNA
gi|1907157882|ref|XM_030253926.2|

Nucleotide
RecName: Full=NACHT, LRR and PYD domains-containing protein 4C; AltName: Full=NA...
RecName: Full=NACHT, LRR and PYD domains-containing protein 4C; AltName: Full=NALP-alpha
gi|123796597|sp|Q3TKR3.1|NAL4C_MOUS

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004083461	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004083461

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 12, 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, SCV004083461.2

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

Description

The c.773G>A (p.R258K) alteration is located in exon 4 (coding exon 3) of the GRM8 gene. This alteration results from a G to A substitution at nucleotide position 773, causing the arginine (R) at amino acid position 258 to be replaced by a lysine (K). 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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