NM_001004310.3(FCRL6):c.1007C>G (p.Ala336Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 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:: RCV004309532.1

Allele description [Variation Report for NM_001004310.3(FCRL6):c.1007C>G (p.Ala336Gly)]

NM_001004310.3(FCRL6):c.1007C>G (p.Ala336Gly)

Gene:

FCRL6:Fc receptor like 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

Preferred name:

NM_001004310.3(FCRL6):c.1007C>G (p.Ala336Gly)

HGVS:

NC_000001.11:g.159810214C>G
NM_001004310.3:c.1007C>GMANE SELECT
NM_001284217.2:c.1028C>G
NP_001004310.2:p.Ala336Gly
NP_001271146.1:p.Ala343Gly
NC_000001.10:g.159780004C>G
NM_001004310.2:c.1007C>G

Protein change:

A336G

Molecular consequence:

NM_001004310.3:c.1007C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001284217.2:c.1028C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Cucumis sativus NADPH--cytochrome P450 reductase 2 (LOC101219498), mRNA
Cucumis sativus NADPH--cytochrome P450 reductase 2 (LOC101219498), mRNA
gi|2792920162|ref|NM_001305759.1|

Nucleotide
Cucumis sativus hexose carrier protein HEX6 (HT3), mRNA
Cucumis sativus hexose carrier protein HEX6 (HT3), mRNA
gi|2792919813|ref|NM_001305712.1|

Nucleotide
Cucumis sativus myb family transcription factor PHL7 (LOC101215173), mRNA
Cucumis sativus myb family transcription factor PHL7 (LOC101215173), mRNA
gi|2792920153|ref|NM_001305769.1|

Nucleotide
Cucumis sativus cv. No.44 CsRDR3 mRNA for RNA-dependent RNA polymerase, complete...
Cucumis sativus cv. No.44 CsRDR3 mRNA for RNA-dependent RNA polymerase, complete cds
gi|2798544311|dbj|LC778230.1|

Nucleotide
Cucumis sativus cv. Sagami Hanjiro Fushinari CsRDR3 mRNA for RNA-dependent RNA p...
Cucumis sativus cv. Sagami Hanjiro Fushinari CsRDR3 mRNA for RNA-dependent RNA polymerase, complete cds
gi|2798544313|dbj|LC778231.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003971200	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 19, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003971200

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 19, 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, SCV003971200.2

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

Description

The c.1007C>G (p.A336G) alteration is located in exon 6 (coding exon 6) of the FCRL6 gene. This alteration results from a C to G substitution at nucleotide position 1007, causing the alanine (A) at amino acid position 336 to be replaced by a glycine (G). 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 10, 2024

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