NM_003567.4(BCAR3):c.1236C>G (p.Phe412Leu) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 13, 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:: RCV004426165.1

Allele description [Variation Report for NM_003567.4(BCAR3):c.1236C>G (p.Phe412Leu)]

NM_003567.4(BCAR3):c.1236C>G (p.Phe412Leu)

Gene:

BCAR3:BCAR3 adaptor protein, NSP family member [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_003567.4(BCAR3):c.1236C>G (p.Phe412Leu)

HGVS:

NC_000001.11:g.93582751G>C
NM_001261408.2:c.1236C>G
NM_001261409.1:c.1236C>G
NM_001261410.2:c.963C>G
NM_001308251.1:c.264C>G
NM_001412043.1:c.1236C>G
NM_001412044.1:c.1236C>G
NM_001412045.1:c.1236C>G
NM_001412046.1:c.1236C>G
NM_001412048.1:c.1236C>G
NM_001412049.1:c.1236C>G
NM_001412050.1:c.1236C>G
NM_001412051.1:c.1236C>G
NM_001412052.1:c.1236C>G
NM_001412054.1:c.1305C>G
NM_001412055.1:c.1311C>G
NM_001412056.1:c.1365C>G
NM_001412057.1:c.1107C>G
NM_001412058.1:c.576C>G
NM_001412059.1:c.915C>G
NM_001412060.1:c.858C>G
NM_001412061.1:c.858C>G
NM_001412062.1:c.858C>G
NM_001412064.1:c.1236C>G
NM_001412065.1:c.1107C>G
NM_001412066.1:c.1236C>G
NM_001412067.1:c.1236C>G
NM_001412072.1:c.1236C>G
NM_001412073.1:c.1272C>G
NM_001412074.1:c.834C>G
NM_001412075.1:c.963C>G
NM_001412076.1:c.900C>G
NM_001412077.1:c.576C>G
NM_003567.4:c.1236C>GMANE SELECT
NP_001248337.1:p.Phe412Leu
NP_001248338.1:p.Phe412Leu
NP_001248339.1:p.Phe321Leu
NP_001295180.1:p.Phe88Leu
NP_001398972.1:p.Phe412Leu
NP_001398973.1:p.Phe412Leu
NP_001398974.1:p.Phe412Leu
NP_001398975.1:p.Phe412Leu
NP_001398977.1:p.Phe412Leu
NP_001398978.1:p.Phe412Leu
NP_001398979.1:p.Phe412Leu
NP_001398980.1:p.Phe412Leu
NP_001398981.1:p.Phe412Leu
NP_001398983.1:p.Phe435Leu
NP_001398984.1:p.Phe437Leu
NP_001398985.1:p.Phe455Leu
NP_001398986.1:p.Phe369Leu
NP_001398987.1:p.Phe192Leu
NP_001398988.1:p.Phe305Leu
NP_001398989.1:p.Phe286Leu
NP_001398990.1:p.Phe286Leu
NP_001398991.1:p.Phe286Leu
NP_001398993.1:p.Phe412Leu
NP_001398994.1:p.Phe369Leu
NP_001398995.1:p.Phe412Leu
NP_001398996.1:p.Phe412Leu
NP_001399001.1:p.Phe412Leu
NP_001399002.1:p.Phe424Leu
NP_001399003.1:p.Phe278Leu
NP_001399004.1:p.Phe321Leu
NP_001399005.1:p.Phe300Leu
NP_001399006.1:p.Phe192Leu
NP_003558.1:p.Phe412Leu
NC_000001.10:g.94048308G>C
NM_003567.2:c.1236C>G
NR_178023.1:n.1487C>G
NR_178024.1:n.1487C>G

Protein change:

F192L

Molecular consequence:

NM_001261408.2:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001261409.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001261410.2:c.963C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001308251.1:c.264C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412043.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412044.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412045.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412046.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412048.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412049.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412050.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412051.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412052.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412054.1:c.1305C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412055.1:c.1311C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412056.1:c.1365C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412057.1:c.1107C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412058.1:c.576C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412059.1:c.915C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412060.1:c.858C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412061.1:c.858C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412062.1:c.858C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412064.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412065.1:c.1107C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412066.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412067.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412072.1:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412073.1:c.1272C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412074.1:c.834C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412075.1:c.963C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412076.1:c.900C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001412077.1:c.576C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003567.4:c.1236C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_178023.1:n.1487C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_178024.1:n.1487C>G - 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
SCV004912822	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Oct 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004912822

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Oct 13, 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, SCV004912822.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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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