NM_001162529.3(FAM135A):c.1341C>G (p.Ser447Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 22, 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:: RCV004330109.1

Allele description [Variation Report for NM_001162529.3(FAM135A):c.1341C>G (p.Ser447Arg)]

NM_001162529.3(FAM135A):c.1341C>G (p.Ser447Arg)

Gene:

FAM135A:family with sequence similarity 135 member A [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_001162529.3(FAM135A):c.1341C>G (p.Ser447Arg)

HGVS:

NC_000006.12:g.70524425C>G
NG_054903.1:g.116022C>G
NM_001105531.3:c.1258+304C>G
NM_001162529.3:c.1341C>GMANE SELECT
NM_001330995.3:c.1258+304C>G
NM_001330996.3:c.1419C>G
NM_001330997.3:c.1258+304C>G
NM_001330998.3:c.1336+304C>G
NM_001330999.3:c.1419C>G
NM_001331000.3:c.1159+304C>G
NM_001331001.3:c.1258+304C>G
NM_001331002.3:c.1258+304C>G
NM_001331003.3:c.1336+304C>G
NM_001331004.3:c.66C>G
NM_001331005.3:c.1242C>G
NM_001331006.3:c.1336+304C>G
NM_001351599.2:c.1419C>G
NM_001351600.2:c.1341C>G
NM_001351602.2:c.1341C>G
NM_001351607.2:c.1341C>G
NM_001351608.2:c.1000+304C>G
NM_001351609.2:c.1078+304C>G
NM_020819.5:c.1207+304C>G
NP_001156001.1:p.Ser447Arg
NP_001317925.1:p.Ser473Arg
NP_001317928.1:p.Ser473Arg
NP_001317933.1:p.Ser22Arg
NP_001317934.1:p.Ser414Arg
NP_001338528.1:p.Ser473Arg
NP_001338529.1:p.Ser447Arg
NP_001338531.1:p.Ser447Arg
NP_001338536.1:p.Ser447Arg
NC_000006.11:g.71234128C>G
NM_001162529.1:c.1341C>G

Protein change:

S22R

Molecular consequence:

NM_001105531.3:c.1258+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330995.3:c.1258+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330997.3:c.1258+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330998.3:c.1336+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001331000.3:c.1159+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001331001.3:c.1258+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001331002.3:c.1258+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001331003.3:c.1336+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001331006.3:c.1336+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001351608.2:c.1000+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001351609.2:c.1078+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_020819.5:c.1207+304C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001162529.3:c.1341C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330996.3:c.1419C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330999.3:c.1419C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001331004.3:c.66C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001331005.3:c.1242C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351599.2:c.1419C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351600.2:c.1341C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351602.2:c.1341C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351607.2:c.1341C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Homo sapiens actin maturation protease (ACTMAP), transcript variant X...
PREDICTED: Homo sapiens actin maturation protease (ACTMAP), transcript variant X5, mRNA
gi|2462564556|ref|XM_054320602.1|

Nucleotide
PREDICTED: Homo sapiens actin maturation protease (ACTMAP), transcript variant X...
PREDICTED: Homo sapiens actin maturation protease (ACTMAP), transcript variant X12, mRNA
gi|2217320636|ref|XM_011526782.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003998335	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003998335

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 22, 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, SCV003998335.2

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

Description

The c.1341C>G (p.S447R) alteration is located in exon 13 (coding exon 12) of the FAM135A gene. This alteration results from a C to G substitution at nucleotide position 1341, causing the serine (S) at amino acid position 447 to be replaced by an arginine (R). 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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