NM_001385994.1(FAM13B):c.1553G>A (p.Gly518Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 20, 2022
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:: RCV004229572.1

Allele description [Variation Report for NM_001385994.1(FAM13B):c.1553G>A (p.Gly518Glu)]

NM_001385994.1(FAM13B):c.1553G>A (p.Gly518Glu)

Genes:

LOC129389374:MPRA-validated peak5488 silencer [Gene]
FAM13B:family with sequence similarity 13 member B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

Preferred name:

NM_001385994.1(FAM13B):c.1553G>A (p.Gly518Glu)

HGVS:

NC_000005.10:g.137954331C>T
NM_001101800.3:c.1487G>A
NM_001101801.3:c.1199G>A
NM_001385866.1:c.1133G>A
NM_001385867.1:c.1487G>A
NM_001385868.1:c.1553G>A
NM_001385869.1:c.761G>A
NM_001385870.1:c.1397G>A
NM_001385872.1:c.1199G>A
NM_001385873.1:c.1199G>A
NM_001385874.1:c.1397G>A
NM_001385921.1:c.1487G>A
NM_001385976.1:c.1199G>A
NM_001385977.1:c.1133G>A
NM_001385978.1:c.917G>A
NM_001385979.1:c.1133G>A
NM_001385980.1:c.1553G>A
NM_001385991.1:c.1487G>A
NM_001385992.1:c.1487G>A
NM_001385994.1:c.1553G>AMANE SELECT
NM_001385995.1:c.1133G>A
NM_001385996.1:c.917G>A
NM_001385997.1:c.1331G>A
NM_001385998.1:c.707G>A
NM_001385999.1:c.1199G>A
NM_016603.4:c.1487G>A
NP_001095270.1:p.Gly496Glu
NP_001095271.1:p.Gly400Glu
NP_001372795.1:p.Gly378Glu
NP_001372796.1:p.Gly496Glu
NP_001372797.1:p.Gly518Glu
NP_001372798.1:p.Gly254Glu
NP_001372799.1:p.Gly466Glu
NP_001372801.1:p.Gly400Glu
NP_001372802.1:p.Gly400Glu
NP_001372803.1:p.Gly466Glu
NP_001372850.1:p.Gly496Glu
NP_001372905.1:p.Gly400Glu
NP_001372906.1:p.Gly378Glu
NP_001372907.1:p.Gly306Glu
NP_001372908.1:p.Gly378Glu
NP_001372909.1:p.Gly518Glu
NP_001372920.1:p.Gly496Glu
NP_001372921.1:p.Gly496Glu
NP_001372923.1:p.Gly518Glu
NP_001372924.1:p.Gly378Glu
NP_001372925.1:p.Gly306Glu
NP_001372926.1:p.Gly444Glu
NP_001372927.1:p.Gly236Glu
NP_001372928.1:p.Gly400Glu
NP_057687.2:p.Gly496Glu
NC_000005.9:g.137290020C>T
NM_016603.2:c.1487G>A
NR_169814.1:n.1795G>A
NR_169815.1:n.1788G>A
NR_169822.1:n.1967G>A
NR_169823.1:n.1987G>A
NR_169824.1:n.1730G>A
NR_169825.1:n.2053G>A
NR_169826.1:n.1987G>A

Protein change:

G236E

Molecular consequence:

NM_001101800.3:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001101801.3:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385866.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385867.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385868.1:c.1553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385869.1:c.761G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385870.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385872.1:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385873.1:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385874.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385921.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385976.1:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385977.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385978.1:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385979.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385980.1:c.1553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385991.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385992.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385994.1:c.1553G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385995.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385996.1:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385997.1:c.1331G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385998.1:c.707G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385999.1:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016603.4:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_169814.1:n.1795G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169815.1:n.1788G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169822.1:n.1967G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169823.1:n.1987G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169824.1:n.1730G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169825.1:n.2053G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169826.1:n.1987G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003729871	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003729871

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 20, 2022)

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, SCV003729871.2

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

Description

The c.1487G>A (p.G496E) alteration is located in exon 14 (coding exon 12) of the FAM13B gene. This alteration results from a G to A substitution at nucleotide position 1487, causing the glycine (G) at amino acid position 496 to be replaced by a glutamic acid (E). 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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