NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Feb 1, 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:: RCV000713791.11

Allele description [Variation Report for NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)]

NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)

Gene:

HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)

Other names:

p.A98V:GCC>GTC

HGVS:

NC_000012.12:g.120979061C>T
NG_011731.2:g.5316C>T
NM_000545.8:c.293C>TMANE SELECT
NM_001306179.2:c.293C>T
NP_000536.5:p.Ala98Val
NP_000536.6:p.Ala98Val
NP_001293108.2:p.Ala98Val
LRG_522t1:c.293C>T
LRG_522:g.5316C>T
NC_000012.11:g.121416864C>T
NM_000545.5:c.293C>T
NM_000545.6:c.293C>T

Protein change:

A98V

Links:

dbSNP: rs1800574

NCBI 1000 Genomes Browser:

rs1800574

Molecular consequence:

NM_000545.8:c.293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001306179.2:c.293C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000844423	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 31, 2017)	germline	clinical testing	PubMed (32) [See all records that cite these PMIDs] 10333057, 10634407, 11289470, 12359128, 12574234, 12618559, 12675668, 15277395, 15761192, 15928245, 16046319, 16186275, 16917892, 16963153, 17033837, 17116178, 17192490, 17425917, 17440016, 17496355, 17573900, 17601994, 17700391, 17924661, 17937063, 18332101, 18513305, 8945470, 9112026, 9133564, 9287053, 26467025
SCV001726692	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005234392	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

SCV000844423

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Aug 31, 2017)

germline

clinical testing

PubMed (32)
[See all records that cite these PMIDs]

SCV001726692

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

germline

clinical testing

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

SCV005234392

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided

Citations

PubMed

Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.

Yoshiuchi I, Yamagata K, Yang Q, Iwahashi H, Okita K, Yamamoto K, Oue T, Imagawa A, Hamaguchi T, Yamasaki T, Horikawa Y, Satoh T, Nakajima H, Miyazaki J, Higashiyama S, Miyagawa J, Namba M, Hanafusa T, Matsuzawa Y.

Diabetologia. 1999 May;42(5):621-6.

PubMed [citation]

PMID:: 10333057

Identification and functional analysis of mutations in the hepatocyte nuclear factor-1alpha gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes.

Kawasaki E, Sera Y, Yamakawa K, Abe T, Ozaki M, Uotani S, Ohtsu N, Takino H, Yamasaki H, Yamaguchi Y, Matsuura N, Eguchi K.

J Clin Endocrinol Metab. 2000 Jan;85(1):331-5.

PubMed [citation]

PMID:: 10634407

See all PubMed Citations (34)

Details of each submission

From Athena Diagnostics, SCV000844423.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (32)

#	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001726692.4

#	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, SCV005234392.1

#	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: Nov 3, 2024

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