NM_004448.4(ERBB2):c.3268C>G (p.Leu1090Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 21, 2024
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:: RCV004380479.1

Allele description [Variation Report for NM_004448.4(ERBB2):c.3268C>G (p.Leu1090Val)]

NM_004448.4(ERBB2):c.3268C>G (p.Leu1090Val)

Gene:

ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_004448.4(ERBB2):c.3268C>G (p.Leu1090Val)

HGVS:

NC_000017.11:g.39727403C>G
NG_007503.1:g.44264C>G
NM_001005862.3:c.3178C>G
NM_001289936.2:c.3223C>G
NM_001289937.2:c.3160-286C>G
NM_001382782.1:c.3178C>G
NM_001382783.1:c.3178C>G
NM_001382784.1:c.3385C>G
NM_001382785.1:c.3370C>G
NM_001382786.1:c.3349C>G
NM_001382787.1:c.3343C>G
NM_001382788.1:c.3298C>G
NM_001382789.1:c.3289C>G
NM_001382790.1:c.3265C>G
NM_001382791.1:c.3259C>G
NM_001382792.1:c.3232C>G
NM_001382793.1:c.3226C>G
NM_001382794.1:c.3226C>G
NM_001382795.1:c.3220C>G
NM_001382796.1:c.3181C>G
NM_001382797.1:c.3169C>G
NM_001382798.1:c.3112C>G
NM_001382799.1:c.3088C>G
NM_001382800.1:c.3082C>G
NM_001382801.1:c.3064C>G
NM_001382802.1:c.3010C>G
NM_001382803.1:c.3118-286C>G
NM_001382804.1:c.2440C>G
NM_001382805.1:c.2317C>G
NM_001382806.1:c.2230C>G
NM_004448.4:c.3268C>GMANE SELECT
NP_001005862.1:p.Leu1060Val
NP_001005862.1:p.Leu1060Val
NP_001276865.1:p.Leu1075Val
NP_001276865.1:p.Leu1075Val
NP_001369711.1:p.Leu1060Val
NP_001369712.1:p.Leu1060Val
NP_001369713.1:p.Leu1129Val
NP_001369714.1:p.Leu1124Val
NP_001369715.1:p.Leu1117Val
NP_001369716.1:p.Leu1115Val
NP_001369717.1:p.Leu1100Val
NP_001369718.1:p.Leu1097Val
NP_001369719.1:p.Leu1089Val
NP_001369720.1:p.Leu1087Val
NP_001369721.1:p.Leu1078Val
NP_001369722.1:p.Leu1076Val
NP_001369723.1:p.Leu1076Val
NP_001369724.1:p.Leu1074Val
NP_001369725.1:p.Leu1061Val
NP_001369726.1:p.Leu1057Val
NP_001369727.1:p.Leu1038Val
NP_001369728.1:p.Leu1030Val
NP_001369729.1:p.Leu1028Val
NP_001369730.1:p.Leu1022Val
NP_001369731.1:p.Leu1004Val
NP_001369733.1:p.Leu814Val
NP_001369734.1:p.Leu773Val
NP_001369735.1:p.Leu744Val
NP_004439.2:p.Leu1090Val
NP_004439.2:p.Leu1090Val
LRG_724t1:c.3178C>G
LRG_724t2:c.3268C>G
LRG_724t4:c.3223C>G
LRG_724:g.44264C>G
LRG_724p1:p.Leu1060Val
LRG_724p2:p.Leu1090Val
LRG_724p4:p.Leu1075Val
NC_000017.10:g.37883656C>G
NM_001005862.2:c.3178C>G
NM_001289936.1:c.3223C>G
NM_004448.2:c.3268C>G
NM_004448.3:c.3268C>G
NR_110535.2:n.3506C>G

Protein change:

L1004V

Molecular consequence:

NM_001289937.2:c.3160-286C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001382803.1:c.3118-286C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001005862.3:c.3178C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289936.2:c.3223C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382782.1:c.3178C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382783.1:c.3178C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382784.1:c.3385C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382785.1:c.3370C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382786.1:c.3349C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382787.1:c.3343C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382788.1:c.3298C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382789.1:c.3289C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382790.1:c.3265C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382791.1:c.3259C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382792.1:c.3232C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382793.1:c.3226C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382794.1:c.3226C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382795.1:c.3220C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382796.1:c.3181C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382797.1:c.3169C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382798.1:c.3112C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382799.1:c.3088C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382800.1:c.3082C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382801.1:c.3064C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382802.1:c.3010C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382804.1:c.2440C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382805.1:c.2317C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382806.1:c.2230C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004448.4:c.3268C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110535.2:n.3506C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Staphylococcus sp. LM4705 16S ribosomal RNA gene, partial sequence
Staphylococcus sp. LM4705 16S ribosomal RNA gene, partial sequence
gi|99079507|gb|DQ517260.1|

Nucleotide
18530[uid] AND (alive[prop]) (1)
Gene
Pcdh8 protocadherin 8 [Mus musculus]
Pcdh8 protocadherin 8 [Mus musculus]
Gene ID:18530

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004866279	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 21, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004866279

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 21, 2024)

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, SCV004866279.1

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

Description

The c.3268C>G (p.L1090V) alteration is located in exon 26 (coding exon 26) of the ERBB2 gene. This alteration results from a C to G substitution at nucleotide position 3268, causing the leucine (L) at amino acid position 1090 to be replaced by a valine (V). 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: May 7, 2024

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Relating variation to medicine