NM_000179.3(MSH6):c.3919_3920insGAT (p.Asn1307delinsArgTyr) AND Lynch syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 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:: RCV004013949.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3919_3920insGAT (p.Asn1307delinsArgTyr)]

NM_000179.3(MSH6):c.3919_3920insGAT (p.Asn1307delinsArgTyr)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3919_3920insGAT (p.Asn1307delinsArgTyr)

HGVS:

NC_000002.12:g.47806569_47806570insGAT
NG_007111.1:g.28423_28424insGAT
NG_008397.1:g.104106_104107insATC
NM_000179.3:c.3919_3920insGATMANE SELECT
NM_001281492.2:c.3529_3530insGAT
NM_001281493.2:c.3013_3014insGAT
NM_001281494.2:c.3013_3014insGAT
NM_001406795.1:c.4015_4016insGAT
NM_001406796.1:c.3919_3920insGAT
NM_001406797.1:c.3622_3623insGAT
NM_001406798.1:c.3745_3746insGAT
NM_001406799.1:c.3394_3395insGAT
NM_001406800.1:c.3906_3907insGAT
NM_001406801.1:c.3622_3623insGAT
NM_001406802.1:c.3898-210_3898-209insGAT
NM_001406803.1:c.3055_3056insGAT
NM_001406804.1:c.3841_3842insGAT
NM_001406805.1:c.3622_3623insGAT
NM_001406806.1:c.3394_3395insGAT
NM_001406807.1:c.3394_3395insGAT
NM_001406808.1:c.3919_3920insGAT
NM_001406809.1:c.3919_3920insGAT
NM_001406811.1:c.3013_3014insGAT
NM_001406812.1:c.3013_3014insGAT
NM_001406813.1:c.3925_3926insGAT
NM_001406814.1:c.3013_3014insGAT
NM_001406815.1:c.3013_3014insGAT
NM_001406816.1:c.3013_3014insGAT
NM_001406817.1:c.2353_2354insGAT
NM_001406818.1:c.3622_3623insGAT
NM_001406819.1:c.3622_3623insGAT
NM_001406820.1:c.3622_3623insGAT
NM_001406821.1:c.3622_3623insGAT
NM_001406822.1:c.3622_3623insGAT
NM_001406823.1:c.3013_3014insGAT
NM_001406824.1:c.3622_3623insGAT
NM_001406825.1:c.3622_3623insGAT
NM_001406826.1:c.3751_3752insGAT
NM_001406827.1:c.3622_3623insGAT
NM_001406828.1:c.3622_3623insGAT
NM_001406829.1:c.3013_3014insGAT
NM_001406830.1:c.3622_3623insGAT
NM_001406831.1:c.700_701insGAT
NM_001406832.1:c.766_767insGAT
NM_001407362.1:c.1864_1865insGAT
NP_000170.1:p.Asn1307delinsArgTyr
NP_000170.1:p.Asn1307delinsArgTyr
NP_001268421.1:p.Asn1177delinsArgTyr
NP_001268422.1:p.Asn1005delinsArgTyr
NP_001268423.1:p.Asn1005delinsArgTyr
NP_001393724.1:p.Asn1339delinsArgTyr
NP_001393725.1:p.Asn1307delinsArgTyr
NP_001393726.1:p.Asn1208delinsArgTyr
NP_001393727.1:p.Asn1249delinsArgTyr
NP_001393728.1:p.Asn1132delinsArgTyr
NP_001393729.1:p.Leu1302_Ile1303insAsp
NP_001393730.1:p.Asn1208delinsArgTyr
NP_001393732.1:p.Asn1019delinsArgTyr
NP_001393733.1:p.Asn1281delinsArgTyr
NP_001393734.1:p.Asn1208delinsArgTyr
NP_001393735.1:p.Asn1132delinsArgTyr
NP_001393736.1:p.Asn1132delinsArgTyr
NP_001393737.1:p.Asn1307delinsArgTyr
NP_001393738.1:p.Asn1307delinsArgTyr
NP_001393740.1:p.Asn1005delinsArgTyr
NP_001393741.1:p.Asn1005delinsArgTyr
NP_001393742.1:p.Asn1309delinsArgTyr
NP_001393743.1:p.Asn1005delinsArgTyr
NP_001393744.1:p.Asn1005delinsArgTyr
NP_001393745.1:p.Asn1005delinsArgTyr
NP_001393746.1:p.Asn785delinsArgTyr
NP_001393747.1:p.Asn1208delinsArgTyr
NP_001393748.1:p.Asn1208delinsArgTyr
NP_001393749.1:p.Asn1208delinsArgTyr
NP_001393750.1:p.Asn1208delinsArgTyr
NP_001393751.1:p.Asn1208delinsArgTyr
NP_001393752.1:p.Asn1005delinsArgTyr
NP_001393753.1:p.Asn1208delinsArgTyr
NP_001393754.1:p.Asn1208delinsArgTyr
NP_001393755.1:p.Asn1251delinsArgTyr
NP_001393756.1:p.Asn1208delinsArgTyr
NP_001393757.1:p.Asn1208delinsArgTyr
NP_001393758.1:p.Asn1005delinsArgTyr
NP_001393759.1:p.Asn1208delinsArgTyr
NP_001393760.1:p.Asn234delinsArgTyr
NP_001393761.1:p.Asn256delinsArgTyr
NP_001394291.1:p.Asn622delinsArgTyr
LRG_219t1:c.3919_3920insGAT
LRG_219:g.28423_28424insGAT
LRG_219p1:p.Asn1307delinsArgTyr
NC_000002.11:g.48033708_48033709insGAT
NM_000179.2:c.3919_3920insGAT
NR_176256.1:n.2849_2850insGAT
NR_176257.1:n.4180_4181insGAT
NR_176258.1:n.4109_4110insGAT
NR_176259.1:n.4008_4009insGAT
NR_176260.1:n.1953_1954insGAT
NR_176261.1:n.3890_3891insGAT

Molecular consequence:

NM_000179.3:c.3919_3920insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001281492.2:c.3529_3530insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001281493.2:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001281494.2:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406795.1:c.4015_4016insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406796.1:c.3919_3920insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406797.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406798.1:c.3745_3746insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406799.1:c.3394_3395insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406801.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406803.1:c.3055_3056insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406804.1:c.3841_3842insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406805.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406806.1:c.3394_3395insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406807.1:c.3394_3395insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406808.1:c.3919_3920insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406809.1:c.3919_3920insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406811.1:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406812.1:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406813.1:c.3925_3926insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406814.1:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406815.1:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406816.1:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406817.1:c.2353_2354insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406818.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406819.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406820.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406821.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406822.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406823.1:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406824.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406825.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406826.1:c.3751_3752insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406827.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406828.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406829.1:c.3013_3014insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406830.1:c.3622_3623insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406831.1:c.700_701insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406832.1:c.766_767insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407362.1:c.1864_1865insGAT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406800.1:c.3906_3907insGAT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001406802.1:c.3898-210_3898-209insGAT - intron variant - [Sequence Ontology: SO:0001627]
NR_176256.1:n.2849_2850insGAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176257.1:n.4180_4181insGAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176258.1:n.4109_4110insGAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176259.1:n.4008_4009insGAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176261.1:n.3890_3891insGAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Lynch syndrome
Identifiers:: MONDO: MONDO:0005835; MedGen: C4552100

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Arginyl-tRNA synthetase, class Ic [Arabidopsis thaliana]
Arginyl-tRNA synthetase, class Ic [Arabidopsis thaliana]
Gene ID:842971

Gene
MACPF domain-containing protein CAD1 [Cucumis sativus]
MACPF domain-containing protein CAD1 [Cucumis sativus]
gi|778693978|ref|XP_011653720.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004840099	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Jan 12, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004840099

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Jan 12, 2024)

germline

clinical testing

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	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

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 All of Us Research Program, National Institutes of Health, SCV004840099.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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