NM_004448.4(ERBB2):c.3403C>T (p.Pro1135Ser) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001515106.7

Allele description [Variation Report for NM_004448.4(ERBB2):c.3403C>T (p.Pro1135Ser)]

NM_004448.4(ERBB2):c.3403C>T (p.Pro1135Ser)

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.3403C>T (p.Pro1135Ser)

HGVS:

NC_000017.11:g.39727538C>T
NG_007503.1:g.44399C>T
NM_001005862.3:c.3313C>T
NM_001289936.2:c.3358C>T
NM_001289937.2:c.3160-151C>T
NM_001382782.1:c.3313C>T
NM_001382783.1:c.3313C>T
NM_001382784.1:c.3520C>T
NM_001382785.1:c.3505C>T
NM_001382786.1:c.3484C>T
NM_001382787.1:c.3478C>T
NM_001382788.1:c.3433C>T
NM_001382789.1:c.3424C>T
NM_001382790.1:c.3400C>T
NM_001382791.1:c.3394C>T
NM_001382792.1:c.3367C>T
NM_001382793.1:c.3361C>T
NM_001382794.1:c.3361C>T
NM_001382795.1:c.3355C>T
NM_001382796.1:c.3316C>T
NM_001382797.1:c.3304C>T
NM_001382798.1:c.3247C>T
NM_001382799.1:c.3223C>T
NM_001382800.1:c.3217C>T
NM_001382801.1:c.3199C>T
NM_001382802.1:c.3145C>T
NM_001382803.1:c.3118-151C>T
NM_001382804.1:c.2575C>T
NM_001382805.1:c.2452C>T
NM_001382806.1:c.2365C>T
NM_004448.4:c.3403C>TMANE SELECT
NP_001005862.1:p.Pro1105Ser
NP_001276865.1:p.Pro1120Ser
NP_001369711.1:p.Pro1105Ser
NP_001369712.1:p.Pro1105Ser
NP_001369713.1:p.Pro1174Ser
NP_001369714.1:p.Pro1169Ser
NP_001369715.1:p.Pro1162Ser
NP_001369716.1:p.Pro1160Ser
NP_001369717.1:p.Pro1145Ser
NP_001369718.1:p.Pro1142Ser
NP_001369719.1:p.Pro1134Ser
NP_001369720.1:p.Pro1132Ser
NP_001369721.1:p.Pro1123Ser
NP_001369722.1:p.Pro1121Ser
NP_001369723.1:p.Pro1121Ser
NP_001369724.1:p.Pro1119Ser
NP_001369725.1:p.Pro1106Ser
NP_001369726.1:p.Pro1102Ser
NP_001369727.1:p.Pro1083Ser
NP_001369728.1:p.Pro1075Ser
NP_001369729.1:p.Pro1073Ser
NP_001369730.1:p.Pro1067Ser
NP_001369731.1:p.Pro1049Ser
NP_001369733.1:p.Pro859Ser
NP_001369734.1:p.Pro818Ser
NP_001369735.1:p.Pro789Ser
NP_004439.2:p.Pro1135Ser
LRG_724:g.44399C>T
NC_000017.10:g.37883791C>T
NR_110535.2:n.3641C>T

Protein change:

P1049S

Links:

dbSNP: rs150165942

NCBI 1000 Genomes Browser:

rs150165942

Molecular consequence:

NM_001289937.2:c.3160-151C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001382803.1:c.3118-151C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001005862.3:c.3313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001289936.2:c.3358C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382782.1:c.3313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382783.1:c.3313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382784.1:c.3520C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382785.1:c.3505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382786.1:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382787.1:c.3478C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382788.1:c.3433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382789.1:c.3424C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382790.1:c.3400C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382791.1:c.3394C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382792.1:c.3367C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382793.1:c.3361C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382794.1:c.3361C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382795.1:c.3355C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382796.1:c.3316C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382797.1:c.3304C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382798.1:c.3247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382799.1:c.3223C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382800.1:c.3217C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382801.1:c.3199C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382802.1:c.3145C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382804.1:c.2575C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382805.1:c.2452C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382806.1:c.2365C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004448.4:c.3403C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_110535.2:n.3641C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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glycosidase [Cronobacter dublinensis subsp. dublinensis LMG 23823]
glycosidase [Cronobacter dublinensis subsp. dublinensis LMG 23823]
gi|924330721|gnl|PRJNA291037|AFK67_ |gb|ALB66742.1|

Protein
treS [Dermatophilus congolensis]
treS [Dermatophilus congolensis]
Gene ID:63459226

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001723104	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005247490	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001723104

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 29, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005247490

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001723104.4

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

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005247490.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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