NM_000558.5(HBA1):c.396T>C (p.Ser132=) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 1, 2023
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:: RCV003103796.5

Allele description [Variation Report for NM_000558.5(HBA1):c.396T>C (p.Ser132=)]

NM_000558.5(HBA1):c.396T>C (p.Ser132=)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.5(HBA1):c.396T>C (p.Ser132=)

HGVS:

NC_000016.10:g.177378T>C
NG_000006.1:g.38241T>C
NG_046166.1:g.2861T>C
NG_059186.1:g.5728T>C
NM_000558.5:c.396T>CMANE SELECT
NP_000549.1:p.Ser132=
LRG_1225t1:c.396T>C
LRG_1225:g.5728T>C
LRG_1225p1:p.Ser132=
NC_000016.9:g.227377T>C
NM_000558.3:c.396T>C
NM_000558.4:c.396T>C
p.Ser132Ser

Links:

dbSNP: rs149264789

NCBI 1000 Genomes Browser:

rs149264789

Molecular consequence:

NM_000558.5:c.396T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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glucan endo-1,3-beta-glucosidase 12 [Vitis vinifera]
glucan endo-1,3-beta-glucosidase 12 [Vitis vinifera]
gi|225457600|ref|XP_002272900.1|

Protein
capn3b [Oncorhynchus gorbuscha]
capn3b [Oncorhynchus gorbuscha]
Gene ID:123990572

Gene
PLEC [Chelonoidis abingdonii]
PLEC [Chelonoidis abingdonii]
Gene ID:116838515

Gene
PREDICTED: homeobox-DDT domain protein RLT1-like isoform X1 [Nicotiana tabacum]
PREDICTED: homeobox-DDT domain protein RLT1-like isoform X1 [Nicotiana tabacum]
gi|1025034677|ref|XP_016443576.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000601193	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Jun 13, 2023)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22638758, 26467025
SCV000603866	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Nov 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000601193

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Jun 13, 2023)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000603866

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely benign
(Nov 1, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hb Etobicoke mutation in a hybrid HBA212 allele [HBA212 84 (F5) Ser>Arg; HBA212:c.255C>G].

Silva MR, Sendin SM, Viana MB.

Ann Hematol. 2012 Dec;91(12):1971-4. doi: 10.1007/s00277-012-1497-z. Epub 2012 May 26. No abstract available.

PubMed [citation]

PMID:: 22638758

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601193.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603866.4

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

#	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: Oct 13, 2024

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